lysine has been researched along with Amino Acid Metabolism Disorders, Inborn in 323 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 180 (55.73) | 18.7374 |
| 1990's | 56 (17.34) | 18.2507 |
| 2000's | 42 (13.00) | 29.6817 |
| 2010's | 29 (8.98) | 24.3611 |
| 2020's | 16 (4.95) | 2.80 |
| Authors | Studies |
|---|---|
| Barbieri Caus, L; Calcagnotto, ME; Pasquetti, MV; Seminotti, B; Wajner, M; Woontner, M | 1 |
| Ikeda, Y; Kosaki, K; Maruo, Y; Matsukawa, Y; Sakamoto, K; Taga, T | 1 |
| Goetzman, ES; Vockley, J | 1 |
| Akasaka, Y; Ichioka, H; Ikegaya, H; Kondo, H; Kondou, H | 1 |
| Ambrus, A; Houten, SM; Jordan, F; Leandro, J; Nagy, B; Nemeria, NS; Sanchez, R; Zhang, X | 1 |
| Crawford, D; Feng, Y; Jackson, M; Khateb, A; Ma, CT; Murad, R; Olson, SH; Pathria, G; Ronai, ZA; Ruppin, E; Scott, D; Sergienko, E; Verma, S | 1 |
| Chen, PJ; DeVita, RJ; Dodatko, T; Houten, SM; Khamrui, S; Lazarus, MB; Leandro, J; Sanchez, R; Secor, C; Suebsuwong, C; Yu, C | 1 |
| Ballhausen, D; Baumgartner, MR; Beblo, S; Boy, N; Burgard, P; Chapman, KA; Dobbelaere, D; Fleissner, S; Grohmann-Held, K; Hahn, G; Harting, I; Heringer-Seifert, J; Hoffmann, GF; Jochum, F; Karall, D; Kölker, S; Konstantopoulous, V; Krawinkel, MB; Lindner, M; Maier, EM; Märtner, EMC; Mühlhausen, C; Nuoffer, JM; Okun, JG; Plecko, B; Posset, R; Sahm, K; Scholl-Bürgi, S; Thimm, E; Vom Dahl, S; Walter, M; Williams, M; Ziagaki, A; Zschocke, J | 1 |
| Hoeks, M; Huigen, M; IJzermans, T; Nijenhuis, T; Rennings, A; van der Meijden, W | 1 |
| Barilli, A; Dall'Asta, V; Ferrari, F; Rotoli, BM; Visigalli, R | 1 |
| Bouchereau, J; Schiff, M | 1 |
| Beiler, K; Bowser, LE; Brigatti, KW; Carson, VJ; Chopko, S; Haas-Givler, B; Hailey, J; Hendrickson, C; Miller, F; Morton, DH; Poskitt, L; Puffenberger, EG; Robinson, DL; Strauss, KA; Taylor, CM; Williams, KB; Young, M | 1 |
| Bernstein, L; Coughlin, CR; Drumm, M; Rohr, F; Yannicelli, S | 1 |
| Argmann, C; Bender, A; Dodatko, T; Houten, SM; Leandro, J; Yu, C | 1 |
| Ballhausen, D; Barroso, M; Braissant, O; Caterino, M; Costanzo, M; Cudalbu, C; Cudré-Cung, HP; Feichtinger, RG; Gersting, SW; Gonzalez Melo, M; Häberle, J; Mayr, JA; Poms, M; Remacle, N; Roux, C; Rüfenacht, V; Ruoppolo, M | 1 |
| Baldo, G; Coitinho, AS; de Lima Rosa, G; Faverzani, J; Gome Dos Reis, B; Gonzalez, EA; Guerreiro, G; Moura, AP; Sitta, A; Vargas, CR; Volfart, V; Wajner, M | 1 |
| Gao, JZ; Luo, XP; Yi, Q; Ying, YQ; Zhang, C | 1 |
| Amaral, AU; da Silva, JC; de Oliveira, FH; Leipnitz, G; Ribeiro, RT; Santamaría, A; Seminotti, B; Souza, DO; Vargas, CR; Wajner, M | 1 |
| Ballhausen, D; Braissant, O; Cudré-Cung, HP; do Vale-Pereira, S; Gonzalez, M; Henry, H; Ivanisevic, J; Mühlhausen, C; Remacle, N; Schmiesing, J | 1 |
| Chen, L; Chen, SL; Cui, D; Hu, YH; Liao, JX; Shen, D; Tang, G | 1 |
| Amaral, AU; Deon, M; Faverzani, J; Groehs, AC; Guerreiro, G; Ribeiro, RT; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Fu, X; Gao, J; Luo, X; Ning, Q; Tian, F; Yi, Q; Zhang, C | 1 |
| de Carvalho, TG; de Souza, DO; Goodman, SI; Koeller, DM; Lagranha, VL; Matte, U; Pereira, CC; Seminotti, B; Wajner, M; Woontner, M | 1 |
| Amaral, AU; da Rosa, MS; Goodman, S; Koeller, DM; Leipnitz, G; Pereira, CC; Ribeiro, RT; Seminotti, B; Wajner, M; Woontner, M | 1 |
| Hoffmann, GF; Kölker, S; Mohr, H; Okun, JG; Opp, S; Posset, R; Sauer, SW; Struys, EA; Völkl, A | 1 |
| Blank, AE; Burgard, P; Koeller, DM; Kölker, S; Komatsuzaki, S; Mittelbronn, M; Okun, JG; Opp, S; Sauer, SW | 1 |
| Amaral, AU; Cecatto, C; de Oliveira, FH; de Souza, DG; Goodman, S; Lagranha, VL; Pereira, CC; Ribeiro, CA; Seminotti, B; Wajner, M; Woontner, M | 1 |
| Hyötyläinen, T; Kurko, J; Lietzen, N; Mattila, I; Mykkänen, J; Näntö-Salonen, K; Niinikoski, H; Nygren, H; Olkku, A; Orešič, M; Pöhö, P; Simell, O; Tanner, L; Tringham, M; Vähä-Mäkilä, M | 1 |
| Assmann, B; Boy, N; Burgard, P; Dixon, M; Fleissner, S; Greenberg, CR; Harting, I; Heringer, J; Hoffmann, GF; Karall, D; Koeller, DM; Kölker, S; Krawinkel, MB; Maier, EM; Mühlhausen, C; Okun, JG; Opladen, T; Posset, R; Sahm, K; Zschocke, J | 1 |
| Arnoux, JB; Assoun, M; Bonnefont, JP; Brassier, A; de Blic, J; de Lonlay, P; Deltour, N; Dubois, S; Galmiche, L; Ghalim, F; Gobin, S; Grisel, C; Habarou, F; Krug, P; Mauhin, W; Moshous, D; Ottolenghi, C; Pinto, G; Pontoizeau, C; Roda, C; Servais, A | 1 |
| Font-Llitjós, M; Nunes, V | 3 |
| Font-Llitjós, M | 3 |
| Dell, S; Douda, DN; Farmakovski, N; Grasemann, H; Palaniyar, N | 1 |
| Berthoux, E; Cordier, JF; Cottin, V; Durieu, I; Gamondes, D; Guffon, N; Sivova, N | 1 |
| Hoffmann, GF; Koeller, DM; Kölker, S; Okun, JG; Opp, S; Sauer, SW | 1 |
| Barilli, A; Bussolati, O; Dall'Asta, V; Gazzola, GC; Kadija, Z; Luisetti, M; Mariani, F; Rodi, G; Rotoli, BM; Ruzza, ML; Visigalli, R | 1 |
| Karall, D; Sass, JO; Scholl-Bürgi, S; Zschocke, J | 1 |
| Dietzen, DJ; Shinawi, M; Sprietsma, L; Weymann, A; White, FV | 1 |
| Hietala, M; Kurko, J; Mykkänen, J; Näntö-Salonen, K; Nevalainen, OS; Niinikoski, H; Simell, O; Tanner, L; Tringham, M; Tuikkala, J | 1 |
| Barilli, A; Bussolati, O; Dall'Asta, V; Dionisi-Vici, C; Font-Llitjós, M; Gatti, R; Gazzola, GC; Goffredo, BM; Luisetti, M; Mariani, F; Martinelli, D; Rotoli, BM; Visigalli, R | 1 |
| Ceyhan, S; Clayton, PT; Footitt, EJ; Jakobs, C; Mills, PB; Struys, EA; Waters, PJ | 1 |
| D'Amato, E; Di Rocco, M; Famà, A; Garibotto, G; Gianiorio, F; Simonato, A; Verzola, D; Villaggio, B | 1 |
| Boy, SP; Burgard, P; Ensenauer, R; Greenberg, CR; Haege, G; Heringer, J; Hoffmann, GF; Koeller, DM; Kölker, S; Maier, EM; Mühlhausen, C; Müller, E; Schlune, A | 1 |
| Amaral, AU; Braga, LM; Busanello, EN; Cecatto, C; de Souza, DO; Fernandes, CG; Goodman, S; Koeller, DM; Ribeiro, CA; Seminotti, B; Wajner, M; Woontner, M; Zanatta, Â | 1 |
| Botto, LD; Ernst, SL; Longo, N; Pasquali, M; Vanzo, RJ; Viau, K | 1 |
| Ashmore, C; Chakrapani, A; Daly, A; Gokmen-Ozel, H; Hendriksz, C; MacDonald, A; Preece, MA; Vijay, S | 1 |
| Assmann, B; Boy, N; Burgard, P; Ensenauer, R; Haege, G; Heringer, J; Hoffmann, GF; Kölker, S; Lücke, T; Maier, EM; Mühlhausen, C; Müller, E | 1 |
| Gao, JZ; Luo, XP | 1 |
| Christensen, E; de Koning, TJ; Dorland, L; Hoffmann, GF; Knerr, I; Müller, P; Rascher, W; Trautmann, U; Trefz, FK; Wündisch, GF; Zschocke, J | 1 |
| Andresen, BS; Campistol, J; Curcoy, A; Gregersen, N; Olsen, RK; Osorio, JH; Ribes, A; Trenchs, V; Vilaseca, MA | 1 |
| Fukagaya, K; Inoue, Y; Kada, A; Koizumi, A; Matsura, N; Takasago, Y | 1 |
| Aalto, M; Lukkarinen, M; Näntö-Salonen, K; Pulkki, K; Simell, O | 1 |
| ASCHKENASY, A; NATAF, B | 1 |
| Mann, GV; Perry, N | 1 |
| HAMBRAEUS, L | 1 |
| DEHEVESY, G; HAMBRAEUS, L | 1 |
| BORLAND, JL; LYNCH, HJ; MCCARTHY, CF; OWEN, EE; TYOR, MP | 1 |
| WOODY, NC | 2 |
| FREYCON, F; FREYCON, MT | 1 |
| SEGNI, G | 1 |
| Buoncompagni, A; Di Rocco, M; Gattorno, M; Martini, A; Meroni, PL; Picco, P | 1 |
| Kölker, S; Müller, E | 1 |
| Ferrer, I; García-Segura, JM; Pascual-Castroviejo, I; Pascual-Pascual, SI; Ugarte, M; Velázquez Fragua, R | 1 |
| Andria, G; Maiuri, L; Maroupulos, GD; Paladino, S; Sebastio, G; Sperandeo, MP; Taglialatela, M; Zurzolo, C | 1 |
| Bachmann, C; Boulat, O; Carrozzo, R; Dionisi-Vici, C; Emma, F; Mannucci, L; Markert, M; Rizzoni, G | 1 |
| Kumar, A; Minal, D; Moosa, NV; Rao, AN | 1 |
| Osada, H; Seki, K | 1 |
| Antonetti, DA; Cheng, KC; Connor, JR; Goodman, SI; Lazovic, J; Smith, MB; Wolpert, EB; Woontner, M; Zinnanti, WJ | 1 |
| Fiona, WJ; Santos, L; Walter, JH | 1 |
| Esposito, V; Fecarotta, S; Lettiero, T; Parenti, G; Salerno, M; Sebastio, G | 1 |
| Artuch, R; García-Cazorla, A; Gömez, L; Gutiérrez, A; Martín, J; Pinillos, S; Varea, V; Vilaseca, MA | 1 |
| Hoffmann, GF; Koeller, DM; Kölker, S; Okun, JG; Sauer, SW | 1 |
| Huoponen, K; Näntö-Salonen, K; Niinikoski, H; Simell, O; Tanner, LM | 1 |
| Andria, G; Annunziata, P; Ballabio, A; Borsani, G; Bozzato, A; Corso, G; D'Armiento, M; Maiuri, L; Piccolo, P; Sebastio, G; Sperandeo, MP | 1 |
| Gibson, B; Gordon, WC; Leach, MT; Robinson, P | 1 |
| Bröer, S | 1 |
| Rabier, D; Saudubray, JM | 1 |
| Huoponen, K; Kotilainen, S; Näntö-Salonen, K; Niinikoski, H; Simell, O; Tanner, LM; Venetoklis, J | 1 |
| Cimbalistiene, L; Huoponen, K; Kucinskas, V; Lehnert, W | 1 |
| Cheng, KC; Connor, JR; Goodman, SI; Housman, C; Jacobs, RE; LaNoue, K; Lazovic, J; O'Callaghan, JP; Simpson, I; Woontner, M; Zinnanti, WJ | 1 |
| Boyd, CA | 1 |
| Aalto, M; Huoponen, K; Kotilainen, S; Näntö-Salonen, K; Niinikoski, H; Rashed, MS; Simell, O; Tanner, LM; Venetoklis, J | 1 |
| Buergi, W; Colombo, JP; Humbel, R; Vassella, F | 1 |
| Binnington, VI; Ghadimi, H; Zischka, R | 1 |
| Armstrong, MD; Robinow, M | 1 |
| Frimpter, GW; Greenberg, AJ | 1 |
| Edelmann, CM; Finberg, L; Soriano, JR; Taitz, LS | 1 |
| Kekomäki, M; Perheentupa, J; Räihä, NC | 1 |
| Perheentupa, J; Rajantie, J; Simell, O | 4 |
| Navar, F | 1 |
| Perheentupa, J; Rajantie, J | 1 |
| Ball, NA; Cook, NJ; Smythe, PJ; Veall, RM; Walker, V; Whiteman, P | 1 |
| Corstiaensen, JB; Sengers, RC; Trijbels, JM | 1 |
| Ampola, MG; Dancis, J; Hutzler, J; Kirby, LT; Shih, VE; van Gelderen, HH; Woody, NC | 1 |
| Goto, I; Kato, M; Kuroiwa, Y; Yoshimura, T | 1 |
| Kang, SS; Melyn, MA; Wong, PW | 1 |
| Behbehani, AW; Gahr, M; Schröter, W | 1 |
| Ban, M; Kato, T; Mizutani, N | 1 |
| Goto, I; Kuroiwa, Y; Yoshimura, T | 1 |
| Christensen, E; Gregersen, N; Kølvraa, S | 1 |
| Chuang, DT; Cox, RP; Markovitz, PJ | 2 |
| Beemer, FA; Duran, M; Janssen, B; Wadman, SK; Wendel, U | 1 |
| Chalmers, RA; Hoppel, CL; Roe, CR; Stacey, TE | 1 |
| DeBree, PK; Grift, J; Van Bree-Blom, EJ; Van Gennip, AH; Wadman, SK | 1 |
| Desjeux, JF; Dumontier, AM; Perheentupa, J; Simell, RO | 1 |
| Ameen, M; Palmer, T | 1 |
| Bauman, ML; Bergman, I; Costello, C; Goodman, SI; Leibel, RL; McCabe, ER; Shih, VE; Zwerdling, RG | 1 |
| Perheentupa, J; Rajantie, J; Rapola, J; Simell, O | 1 |
| Rajantie, J; Rapola, J; Siimes, MA | 1 |
| Perheentupa, J; Rajantie, J; Siimes, MA; Simell, O | 1 |
| Ebeling, P; Lamberg, BA; Perheentupa, J; Rajantie, J; Saarinen, P; Simell, O; Welin, MG | 1 |
| Kamoun, PP; Parvy, PR | 1 |
| Meister, A; Wellner, D | 1 |
| Hasanoğlu, A; Ozalp, I; Tunçbilek, E; Yalaz, K | 1 |
| Cathelineau, L; Charpentier, C; Coude, FX; Frezal, J; Grimber, G; Ogier, H; Parvy, P; Saudubray, JM | 1 |
| Becker, K | 1 |
| Fukuda, S; Kimura, M; Mori, H | 1 |
| Eller, AG; Hommes, FA; Taylor, EH | 1 |
| Lawler, AM; Milam, AH; Sipila, I; Steel, G; Valle, D; Wang, T | 1 |
| Andria, G; Incerti, B; Parenti, G; Pecoraro, C; Sebastio, G; Strisciuglio, P; Terracciano, L | 1 |
| Firoozmand, S; Ibraheim, AS; Khan, MY | 1 |
| Bébin, B; Candito, M; Chambon, P; Chazalette, JP; Ferraci, JP; Mathieu, M; Sebag, F; Vianey-Saban, C | 1 |
| Di Rocco, M | 1 |
| Aho, H; Kallajoki, M; Parto, K; Simell, O | 1 |
| Mäki, J; Parto, K; Pelliniemi, LJ; Simell, O | 1 |
| Rohr, F; Warman, ML; Yannicelli, S | 1 |
| Borrone, C; Caruso, U; DiRocco, M; Garibotto, G; Picco, P; Rossi, GA; Taccone, A | 1 |
| Bar Ziv, Y; Branski, D; Elpelg, ON; Kerem, E; Rosenman, E; Shalev, RS | 1 |
| Härkönen, R; Majurin, ML; Parto, K; Simell, O; Svedström, E | 1 |
| Paronen, I; Parto, K; Pelliniemi, L; Penttinen, R; Simell, O | 1 |
| Barth, PG; Duran, M; Hanefeld, F; Hoffmann, GF; Jaeken, J; Jakobs, C; Jansen, GA; Lehnert, W; Valk, J; Wanders, RJ | 1 |
| Marttinen, M; Parto, K; Simell, O; Svedström, E; Virtama, P | 1 |
| Bakker, HD | 1 |
| Andria, G; Celentano, L; Grillo, G; Guidi, G; Larocca, MR; Parenti, G; Rotondo, A; Santamaria, F; Sebastio, G; Strisciuglio, P | 1 |
| Dalton, RN; Howard, RS; Olpin, SE; Prevett, MC | 1 |
| Carson, DJ; Hill, CM; Love, AH; McManus, DT; Moore, R; Rodgers, C | 1 |
| Arimura, H; Machigashira, K; Moritoyo, T; Nagamatsu, K; Osame, M; Suehara, M; Yoshida, Y | 1 |
| Biberoğlu, G; Dílek, EO; Hasanoğlu, A; Memíş, L | 1 |
| Bowen, T; Klassen, J; Parsons, H; Pinto, A; Snyder, F | 1 |
| Emons, D; Haverkamp, F; Kreft, B; Woelfle, J | 1 |
| de Klerk, JB; Duran, M; Huijmans, JG; Mancini, GM | 1 |
| Doireau, V; Duval, M; Fenneteau, O; Ogier de Baulny, H; Perelman, S; Schlegel, N; Touati, G; Vilmer, E | 1 |
| Gare, M; Gutman, A; Shalit, M | 1 |
| Aula, P; Lauteala, T; Lukkarinen, M; Mykkänen, J; Savontaus, ML; Simell, J; Simell, O; Sistonen, P | 1 |
| Aula, P; Closs, E; Cunningham, J; Horelli-Kuitunen, N; Lauteala, T; Lukkarinen, M; Palotie, A; Savontaus, MI; Simell, O | 1 |
| Gürsel, T; Hasanoğlu, A; Koçak, U; Tümer, L | 1 |
| Jessurun, J; Reinoso, MA; Schwarzenberg, SJ; Whitley, C | 1 |
| Kamoda, T; Kobayashi, C; Nagai, Y; Nakamura, N; Sekijima, T; Shibasaki, M; Shigeta, M | 1 |
| Bottero, S; Caniglia, M; De Felice, L; Dionisi-Vici, C; el Hachem, M; Goffredo, B; Paoloni, A; Rizzo, C; Sabetta, G | 1 |
| Lauteala, T; Lukkarinen, M; Näntö-Salonen, K; Nuutinen, M; Ruuskanen, O; Säkö, S; Simell, O | 1 |
| Nagao, M; Oyanagi, K | 2 |
| Higashino, K | 1 |
| Terada, N | 1 |
| Andria, G; Borsani, G; Castaldo, P; Incerti, B; Rossi, E; Sebastio, G; Sperandeo, MP; Taglialatela, M; Zollo, M; Zuffardi, O | 1 |
| Fukuyama, Y; Hirayama, H; Ishikawa, Y; Li Wei, K; Nozawa, T | 1 |
| Gibson, KM; Medina-Kauwe, LK; Nyhan, WL; Tobin, AJ | 1 |
| Borrone, C; Buoncompagni, A; Di Rocco, M; Gatton, M; Gattorno, M; Picco, P; Vignola, S | 1 |
| Estévez, R; Fernández, E; Lloberas, J; Palacín, M; Pineda, M; Shi, YB; Torrents, D; Zorzano, A | 1 |
| de Baulny, HO; Doireau, V; Drapier, JC; Duval, M; Emilie, D; Faye, A; Fenneteau, O; Schlegel, N; Sterkers, G; Vilmer, E; Yotnda, P | 1 |
| Aula, P; de Cid, R; Estévez, R; Feliubadaló, L; Huoponen, K; Mykkänen, J; Nunes, V; Palacín, M; Pineda, M; Reinikainen, A; Sanjurjo, P; Savontaus, ML; Simell, O; Torrents, D; Zorzano, A | 1 |
| Andria, G; Ballabio, A; Bassi, MT; Borsani, G; Buoninconti, A; De Grandi, A; Incerti, B; Manzoni, M; Pepe, A; Riboni, M; Sebastio, G; Sperandeo, MP | 1 |
| Käyhty, H; Lukkarinen, M; Olander, RM; Parto, K; Ruuskanen, O; Simell, O; Vainio, O | 1 |
| Aaltonen, J; Aula, P; Horelli-Kuitunen, N; Lauteala, T; Mykkänen, J; Paavola, P; Savontaus, ML; Simell, O | 1 |
| Adami, A; Andria, G; Buoninconti, A; Lauteala, T; Mykkänen, J; Passariello, A; Scala, I; Sebastio, G; Sperandeo, MP | 1 |
| Inoue, S; Kawata, S; Kayanoki, Y; Kiso, S; Matsuzawa, Y; Tamura, S; Taniguchi, N; Yamasaki, E | 1 |
| Andria, G; Ballabio, A; Bassi, MT; Borsani, G; Bulfone, A; Buoninconti, A; De Grandi, A; Gattuso, C; Incerti, B; Manzoni, M; Pepe, A; Riboni, M; Sebastio, G; Sperandeo, MP; Surace, EM | 1 |
| Bader-Meunier, B; Muller, S; Parez, N | 1 |
| Kayo, T; Koizumi, A; Konishi, M; Maisawa, S; Matsumori, M; Noguchi, A; Ohata, T; Shoji, Y; Takada, G; Takahashi, T; Takasago, Y; Wada, Y; Yoshimura, I | 1 |
| Boyd, CA; Deves, R; Kudo, Y; Laynes, R; Sebastio, G | 1 |
| Lukkarinen, M; Mattila, K; Näntö-Salonen, K; Pulkki, K; Simell, O | 1 |
| Heinonen, OJ; Näntö-Salonen, K; Peltola, K; Pulkki, K; Simell, O | 1 |
| Dakeishi, M; E, X; Koizumi, A; Manabe, M; Noguchi, A; Nozaki, J; Ohura, T; Shoji, Y; Takada, G; Takasago, Y; Tsuyoshi, K; Yasuhiko, W | 1 |
| Kondurkar, P; Muranjan, MN | 1 |
| Prats Viñas, J | 1 |
| Boncompagni, A; Caruso, U; Di Rocco, M | 1 |
| Brink, M; de Bree, PK; de Pater, JM; v Sprang, FJ; van Biervliet, JP; vd Heiden, C; Wadman, SK | 1 |
| Casey, RE; MacKenzie, SL; Mendelson, IS; Philp, M; Zaleski, WA | 1 |
| Broquist, HP | 1 |
| Gatfield, PD; Haust, MD; Taller, E; Wolfe, DM | 1 |
| Greco, GM; Magli, A | 1 |
| Ardouin, P; Cartigny, B; Dhondt, JL; Farriaux, JP | 1 |
| Merin, S; Statter, M; Yatziv, S | 1 |
| Brandt, NJ; Christensen, E; Gregersen, N; Grøn, IH; Rasmussen, K | 1 |
| Hill, R; Ryan, ED; Spate, M; Whelan, DT | 1 |
| Cox, RP; Dancis, J; Hutzler, J | 1 |
| Berio, A | 1 |
| Kyllerman, M; Steen, G | 1 |
| Milosević, P; Petrović, Lj | 1 |
| Beaudet, AL; Michels, VV | 1 |
| Iakovenko, LP; Krasnopol'skaia, KD; Lebedev, BV; Mazaeva, IV | 1 |
| Ellory, JC; Tucker, EM; Young, JD | 1 |
| Oyanagi, K | 1 |
| Chiba, T; Minami, R; Nakao, T; Oyanagi, K; Sogawa, H | 1 |
| Batshaw, M; Brusilow, S; Kulovich, S; Nyhan, W; Spector, E; Thoene, J; Walser, M | 1 |
| Brandt, NJ; Brandt, S; Christensen, E; Gregersen, N; Gron, I; Rasmussen, K | 1 |
| Breslich, DJ; Goodman, SI; Moe, PG; Norenberg, MD; Shikes, RH | 1 |
| Carson, NA; Redmond, OA | 1 |
| Billmeier, GJ; Cavallo, K; Chan, H; Molinary, SV; Schaffer, A; Shin, BC; Tucker, HN | 1 |
| Nakao, T; Oyanagi, K; Sogawa, H | 1 |
| Jarosch, E; Plöchl, E | 1 |
| Fujita, T; Kobayashi, T; Tsukagoshi, H; Ueno, E; Yanagisawa, N | 1 |
| Cox, RP; Dancis, J; Hutzler, J; Woody, NC | 2 |
| Shih, VE | 1 |
| Bachmann, C; Cejka, J; Gronemeyer, WH; Krieger, I | 1 |
| Nakao, T; Orii, T; Oyanagi, K; Sato, S; Sogawa, H | 1 |
| Horisawa, S; Kato, T; Tanaka, E | 1 |
| Bachmann, D; Becker, K; Bremer, HJ; Lombeck, I; Przyrembel, H; Wadman, SK; Wendel, U | 1 |
| Bremer, HJ; Przyrembel, H; Rüdiger, HW; Wendel, U | 1 |
| berger, H; jarosch, E; Ludescher, E | 1 |
| Simell, O | 2 |
| Eskelin, LE; Perheentupa, J; Rapola, J; Simell, O; Visakorpi, JK | 1 |
| Gates, SC; Higgins, JV; Wilson, CM; Wilson, RW | 1 |
| Allegranza, A; Berio, A; Cadoni, M; Camozzi, C; Cavallo, V; Di Stefano, A; Santos, JG; Scapaticci, E | 1 |
| Awrich, AE; Cantrell, JE; Patterson, JH; Rudman, D; Stackhouse, WJ | 1 |
| al Awadi, SA; Bastaki, L; el Khalifa, MY; Farag, TI; Kasrawi, B; Marafie, MJ; Sam, T; Wahba, RA; Yadav, G | 1 |
| Fujii, M; Kishida, K; Ono, N; Shimada, Y; Tokumoto, K; Watanabe, M; Yoshinaga, J | 1 |
| Kameyama, M; Sawada, H; Seriu, N; Sugiyama, H; Udaka, F | 1 |
| Gregory, JW | 1 |
| Corbetta, C; Melotti, D; Parini, R; Piceni Sereni, L; Pontiggia, M; Rossi, A; Vegni, M | 1 |
| Divry, P; Mathieu, M; Vianey-Liaud, C | 1 |
| Atanasova, E | 1 |
| Aoki, K; Kawamura, G; Koda, N; Kono, S; Nagata, M; Suzuki, M; Yamaguchi, S | 1 |
| Hayakawa, C; Kato, T; Mizutani, N; Sano, M | 1 |
| Kato, T; Mizutani, N; Sano, M | 1 |
| Beail, N; Boyle, NA; Dobrowski, C; Gregory, JW; Jackson, P | 1 |
| Botschner, J; Scriver, CR; Simell, O; Smith, DW | 1 |
| Dancis, J; Hutzler, J | 1 |
| Goto, K; Kanehisa, Y; Kitajima, I; Nagamatsu, K; Umehara, F | 1 |
| Aoyama, T; Nakao, T; Oyanagi, K; Tsuchiyama, A; Tsugawa, S; Uetsuji, N; Wagatsuma, K | 1 |
| Brusilow, SW; Rajantie, J; Simell, O; Sipilä, I; Valle, DL | 1 |
| Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G | 1 |
| Goto, A; Goto, R; Komatsu, K; Takada, G | 1 |
| Bardet, J; Kamoun, P; Parvy, P; Rabier, D | 1 |
| Scriver, CR; Simell, O; Smith, DW | 1 |
| Kurihara, T; Matsukura, S; Shioya, K; Yamamura, Y | 1 |
| de Parscau, L; Divry, P; Guibaud, P; Hermier, M; Vianey-Liaud, C | 1 |
| Morino, Y | 1 |
| Anast, CS; Carpenter, TO; Holtrop, ME; Levy, HL; Shih, VE | 1 |
| Andreanos, D; Moschos, M | 1 |
| Kappas, A; Manabe, S; Sassa, S | 1 |
| Buchanan, JA; Rosenblatt, DS; Scriver, CR | 1 |
| Bercu, BB; Glick, TH; Shih, VE | 1 |
| Fluharty, AL; Kihara, H; Porter, MT; Valente, M | 1 |
| Perheentupa, J; Visakorpi, JK | 1 |
| Bundgaard, L; Winther, A | 1 |
| Gardner, LI | 1 |
| Perheentupa, J; Simell, O | 2 |
| Goetz, P; Hoza, J; Hyánek, J; Kubík, M; Sedlácková, M; Seemanová, E | 1 |
| Bürgi, W; Colombo, JP; Richterich, R | 1 |
| Aula, P; Johansson, T; Simell, O | 1 |
| Scott-Emuakpor, AB | 1 |
| Levin, B; Oberholzer, VG; Palmer, T | 2 |
| Cathelineau, L; Charpentier, C; Polonovski, C; Saudubray, JM | 1 |
| Century, B; Natelson, S; Vorkink, WP | 1 |
| Fischer, MH; Gerritsen, T; Opitz, JM | 1 |
| Eyre, DR; Glimcher, MJ | 1 |
| Ampola, MG | 1 |
| Boisse, J; Moatti, N | 1 |
| Levy, HL | 1 |
| Frimpter, GW | 1 |
| Carson, NA | 1 |
| Perheentupa, J; Simell, O; Visakorpi, JK | 1 |
| Bergner, H; Münchmeyer, R; Simon, O | 1 |
| Lewis, HR; Wang, FC | 1 |
| Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M | 1 |
| Tomaszewski, L | 1 |
| Bergström, K; Hellström, K; Kallner, M; Lundh, G | 1 |
| Bovier-Lapierre, M | 1 |
| Pupene, MB; Woody, NC | 1 |
| Teijema, HL; van Gelderen, HH | 1 |
| Kovács, J | 1 |
| Carson, NA; Fellows, FC | 1 |
| Fell, V; Pollitt, RJ; Sampson, GA; Wright, T | 1 |
| Ampola, MG; Efron, ML | 1 |
| Scriver, CR | 1 |
| Menne, F | 1 |
| Colombo, JP | 1 |
| Szliwowski, HB; Thiriar, MJ; Vis, HL | 1 |
| Glimcher, MJ; Kenzora, JE; Krane, SM; Pinnell, SR | 1 |
| Prockop, DJ | 1 |
| Lee, DJ | 1 |
| Donner, M; Simell, O; Visakorpi, JK | 1 |
| Brown, DA; Turner, B | 1 |
| Adams, ED; Brown, JH; Fabre, LF; Farrell, GL | 1 |
| Kekomäki, M; Norio, R; Perheentupa, J; Visakorpi, JK | 1 |
| Barois, A; Caldera, R; Escourolle, R; Goulon, M; Grosbuis, S; Nouailhat, F | 1 |
| Allen, IV; Carson, NA; Chopra, JS; Hurwitz, LJ | 1 |
| Hurwitz, LJ; McCormick, D | 1 |
| Miura, R; Oyanagi, K; Yamanouchi, T | 1 |
| Akazawa, S; Matsuoka, Y; Nakajima, T | 1 |
| Tada, K; Takada, G | 1 |
| Copeland, W; Kelly, S; Leikhim, E | 1 |
| Antener, I | 1 |
| Jagenburg, R; Lindstedt, G; Malmquist, J | 1 |
| Badonnel, Y; Dautrevaux, M; Gelot, S; Levin, B; Neimann, N; Paysant, P; Pierson, M; Vidailhet, M | 1 |
| Gatfield, PD; Taller, E | 1 |
| Brodehl, J; Gellissen, K; Kowalewski, S | 1 |
| Gusev, EI | 1 |
| Kekomäki, M | 1 |
| Carré, LJ; Carson, NA; Neill, DW; Scally, BG | 1 |
| Guazzi, GC; Martin, JJ; Van Bogaert, L | 1 |
| Scriver, CR; Whelan, DT | 1 |
| Efron, ML; Moser, HW; Shih, VE | 1 |
| Gross, S; Maskaleris, ML; Milhorat, AT | 1 |
| Frimpter, GW; Strickler, JC | 1 |
| Binnington, VI; Ghadimi, H; Pecora, P | 1 |
| Bernasowska-Knapczykowa, K; Hanicka, M; Kos, S | 1 |
28 review(s) available for lysine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Lysine acylation causes collateral damage in inborn errors of metabolism.
Topics: Acylation; Amino Acid Metabolism, Inborn Errors; Humans; Lysine; Protein Processing, Post-Translational | 2022 |
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Carnitine; Epilepsy; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Metabolic Diseases; Pyridoxal Phosphate; Pyridoxine | 2020 |
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Dietary Supplements; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Lysine | 2017 |
Amino acid metabolism in patients with propionic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Citric Acid Cycle; Diet; Glutamine; Glycine; Humans; Isoleucine; Lysine; Methylmalonyl-CoA Decarboxylase; Models, Biological; Propionic Acidemia; Urea; Valine | 2012 |
[Progress of glutaric aciduria type I].
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Child, Preschool; Diagnosis, Differential; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Lysine; Magnetic Resonance Imaging; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Neonatal Screening; Radiography | 2012 |
Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency.
Topics: Adult; Aging; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet, Protein-Restricted; Glutaryl-CoA Dehydrogenase; Humans; Infant; Lysine; Malnutrition; Oxidoreductases Acting on CH-CH Group Donors | 2004 |
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Biomarkers; Humans; Lysine; Ornithine | 2007 |
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine | 1981 |
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopsy; Bone Marrow; Bone Marrow Diseases; Child; Child, Preschool; Female; Humans; Infant; Italy; Kidney; Lung; Lysine; Male; Retrospective Studies | 1995 |
Nutrition support for glutaric acidemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Dietary Proteins; Female; Food, Formulated; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Lysine; Male; Mitochondria; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Riboflavin; Tryptophan | 1994 |
[Familial hyperlysinemia(alpha-aminoadipic semialdehyde synthase defect)].
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Lysine; Multienzyme Complexes; Prognosis; Saccharopine Dehydrogenases | 1998 |
[Saccharopinuria (a variant form of familial hyperlysinemia)].
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Humans; Infant, Newborn; Lysine; NADP; Prognosis | 1998 |
[L-2-hydroxyglutaric aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cerebellar Ataxia; Diagnosis, Differential; Glutarates; Humans; Lysine; Magnetic Resonance Imaging; Prognosis; Psychomotor Disorders | 1998 |
[Lysinuric protein intolerance and other cationic aminoacidurias].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Diagnosis, Differential; Diet, Protein-Restricted; Humans; Infant; Lysine; Renal Aminoacidurias | 1998 |
Amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Carnitine; Corynebacterium; Glutamates; Humans; Keto Acids; Lysine; Methionine; Methylmalonic Acid; Neurospora crassa; Phenylketonurias; Plants; Protein Biosynthesis; Protein O-Methyltransferase; Taurine; Vitamin B Complex | 1976 |
[Eye manifestations of amino acid disorders].
Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria; Eye Diseases; Eye Manifestations; Glycine; Hartnup Disease; Hepatolenticular Degeneration; Homocystinuria; Humans; Lysine; Oculocerebrorenal Syndrome; Oxidoreductases; Phenylketonurias; Proline; Pyruvates | 1978 |
[Diagnosis and management of the aminoacidopathies (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Citric Acid Cycle; Female; Genotype; Homocysteine; Humans; Lysine; Phenylalanine; Pregnancy; Prenatal Diagnosis | 1978 |
[Inborn errors of lysine metabolism].
Topics: 2-Aminoadipic Acid; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glutarates; Humans; Infant; Infant, Newborn; Lysine; Male; Pipecolic Acids | 1991 |
Genetically expressed abnormalities in the fetus.
Topics: Adrenal Insufficiency; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Ammonia; Anemia, Sickle Cell; Anencephaly; Carbohydrate Metabolism, Inborn Errors; Fabry Disease; Female; Fetal Diseases; Fetus; Gangliosides; Gaucher Disease; Humans; Karyotyping; Lipid Metabolism, Inborn Errors; Lipidoses; Lysine; Metabolism, Inborn Errors; Mucopolysaccharidoses; Polyploidy; Pregnancy; Propionates; Sphingolipidoses; Turner Syndrome; Vitamin B 12 | 1974 |
Phenylketonuria and other disorders of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1973 |
[Amino acid transfer systems and their importance in pathology. II. Specific abnormalities in renal and intestinal amino acid transfer].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Cystine; Female; Glycine; Hartnup Disease; Humans; Infant; Lysine; Malabsorption Syndromes; Male; Methionine; Renal Tubular Transport, Inborn Errors; Tryptophan | 1973 |
Genetic screening.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine | 1973 |
Aminoacidurias due to inherited disorders of metabolism. 2.
Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; Dipeptides; Glutarates; Glycine; Histidine; Humans; Hydroxyproline; Hyperglycemia; Infant, Newborn; Keto Acids; Lysine; Malonates; Maple Syrup Urine Disease; Ornithine Carbamoyltransferase; Phosphotransferases; Proline; Sarcosine; Succinates; Urea; Valine | 1973 |
Metabolic errors in lysine degradation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Collagen; Electroencephalography; Female; Fibroblasts; Humans; Hydroxylysine; Lysine; Male; Oxidoreductases; Pipecolic Acids | 1974 |
The aminoacidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 1967 |
Use of human genetic variation to study membrane transport of amino acids in kidney.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Child; Cysteine; Genetics, Medical; Heterozygote; Homozygote; Humans; Kidney; Lysine; Male; Mutation; Proline; Renal Tubular Transport, Inborn Errors | 1969 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine | 1968 |
Congenital disorders of the urea cycle and ammonia detoxication.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Brain; Chromosome Aberrations; Fetus; Humans; Liver; Lysine; Metabolism, Inborn Errors; Urea | 1971 |
2 trial(s) available for lysine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
Topics: Amino Acid Metabolism, Inborn Errors; Anthropometry; Biomarkers; Body Weights and Measures; Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Dietary Supplements; Eating; Female; Follow-Up Studies; Food, Formulated; Glutaryl-CoA Dehydrogenase; Humans; Infant; Lysine; Male; Monitoring, Physiologic | 2013 |
Oral lysine feeding in gyrate atrophy with hyperornithinaemia--a pilot study.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Awards and Prizes; Drug Tolerance; Feeding Behavior; Gyrate Atrophy; Humans; Lysine; Male; Middle Aged; Ornithine; Pilot Projects; Societies, Medical | 2000 |
293 other study(ies) available for lysine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Increased susceptibility to quinolinic acid-induced seizures and long-term changes in brain oscillations in an animal model of glutaric acidemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic; Disease Models, Animal; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Mice; Mice, Knockout; Quinolinic Acid; Seizures | 2022 |
Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Exons; Female; Humans; Lymphohistiocytosis, Hemophagocytic; Lysine; Mutation | 2022 |
Sudden death of a 2-year-old child due to alpha-ketoadipic aciduria.
Topics: Adipates; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Death, Sudden; Humans; Lysine; Male; Tryptophan | 2022 |
Functional Versatility of the Human 2-Oxoadipate Dehydrogenase in the L-Lysine Degradation Pathway toward Its Non-Cognate Substrate 2-Oxopimelic Acid.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Ketoglutarate Dehydrogenase Complex; Lysine; NAD; Oxidation-Reduction | 2022 |
NRF2 mediates melanoma addiction to GCDH by modulating apoptotic signalling.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; DNA; Glutaryl-CoA Dehydrogenase; Humans; Ketoglutarate Dehydrogenase Complex; Lysine; Melanoma; Mitochondrial Proteins; NF-E2-Related Factor 2 | 2022 |
Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; Cysteine; Ethylmaleimide; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Mice; Saccharopine Dehydrogenases | 2022 |
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Lysine | 2023 |
Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Arginine; Humans; Kidney Transplantation; Lysine; Metabolic Diseases; Ornithine | 2023 |
y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Amino Acid Transport Systems, Basic; Arginine; Biological Transport; Caco-2 Cells; Fibroblasts; Humans; Kidney Tubules; Lysine; Macrophages; Mutation; Sodium | 2020 |
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Corpus Striatum; Diet; Female; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Lysine; Male | 2020 |
Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Child; Child Nutritional Physiological Phenomena; Child, Preschool; Diet Therapy; Dietary Proteins; Female; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lysine; Male; Practice Guidelines as Topic; Recommended Dietary Allowances; Surveys and Questionnaires; Tryptophan | 2020 |
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
Topics: Acyltransferases; Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Glutarates; Humans; Lysine; Metabolic Diseases; Mice; Mice, Inbred Strains; Oxidoreductases; Phenotype; Transferases | 2021 |
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Brain Diseases, Metabolic; Creatine; Disease Models, Animal; Gene Knock-In Techniques; Gliosis; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Metabolism, Inborn Errors; Rats | 2021 |
Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; Carnitine; Cathepsin D; Corpus Striatum; Glutaryl-CoA Dehydrogenase; Grooming; Inflammation; Interleukin-1beta; Locomotion; Lysine; Mice, Knockout; Neuroprotective Agents; Open Field Test; Transforming Growth Factor beta | 2021 |
[Effect of glutaryl-CoA dehydrogenase gene silencing and high-concentration lysine on the viability of BRL hepatocytes].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Brain Diseases, Metabolic; Caspase 3; Cell Survival; Cells, Cultured; Fluorescent Antibody Technique; Gene Silencing; Glutaryl-CoA Dehydrogenase; Hepatocytes; Lysine; Rats | 2017 |
Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; CD3 Complex; Corpus Striatum; Disease Models, Animal; Dose-Response Relationship, Drug; Gene Expression Regulation; Glial Fibrillary Acidic Protein; Glutaryl-CoA Dehydrogenase; Inflammation; Lysine; Mice; Mice, Inbred C57BL; Mice, Knockout; Oxidation-Reduction; Quinolinic Acid; S100 Calcium Binding Protein beta Subunit; Statistics, Nonparametric; Time Factors; Tyrosine | 2018 |
Ammonium accumulation and chemokine decrease in culture media of Gcdh
Topics: Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Animals; Brain; Brain Diseases, Metabolic; Cell Culture Techniques; Chemokines; Culture Media; Glutaryl-CoA Dehydrogenase; Lysine; Mice; Mice, Inbred C57BL; Mice, Knockout; Tissue Scaffolds | 2019 |
[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Child; Citrulline; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Mutation | 2019 |
l-Carnitine prevents oxidative stress in striatum of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; Carnitine; Corpus Striatum; Diet; Disease Models, Animal; Glutaryl-CoA Dehydrogenase; Glutathione Peroxidase; Lysine; Mice; Mice, Knockout; Oxidative Stress; Reactive Oxygen Species; Superoxide Dismutase | 2019 |
Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; Base Sequence; Biological Transport; Brain Diseases, Metabolic; Caspase Inhibitors; Cell Survival; Gene Expression Regulation; Gene Knockdown Techniques; Glutaryl-CoA Dehydrogenase; Lentivirus; Lysine; Membrane Potential, Mitochondrial; Neostriatum; Neurons; Rats; Rats, Sprague-Dawley; RNA, Small Interfering | 2013 |
Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System X-AG; Animals; Brain Diseases, Metabolic; Cerebral Cortex; Diet; Female; Gene Expression Regulation; Glutaryl-CoA Dehydrogenase; Lysine; Male; Mice; Neostriatum; Receptors, Glutamate; RNA, Messenger | 2014 |
Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: a role for oxidative stress in GA I neuropathology.
Topics: Amino Acid Metabolism, Inborn Errors; Analysis of Variance; Animals; Animals, Newborn; Brain; Brain Diseases, Metabolic; Brain Injuries; Catalase; Disease Models, Animal; Glutaryl-CoA Dehydrogenase; Glutathione; Glutathione Peroxidase; Lysine; Mice; Mice, Transgenic; Neuroprotective Agents; Oxidation-Reduction; Oxidative Stress; Superoxide Dismutase | 2014 |
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic; Deamination; Disease Models, Animal; Genetic Predisposition to Disease; Glutaryl-CoA Dehydrogenase; Liver; Lysine; Mice, Knockout; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Peroxisomes; Phenotype; Pipecolic Acids | 2015 |
Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.
Topics: Aconitate Hydratase; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic; Diet; Disease Models, Animal; Dose-Response Relationship, Drug; Energy Metabolism; Female; Genetic Predisposition to Disease; Glutarates; Glutaryl-CoA Dehydrogenase; Glyceraldehyde-3-Phosphate Dehydrogenases; Ketoglutarate Dehydrogenase Complex; Lysine; Male; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Risk Factors; Sex Factors; Spectrophotometry | 2015 |
Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases; Brain Diseases, Metabolic; Cerebral Cortex; Corpus Striatum; Diet; Disease Models, Animal; Energy Metabolism; Glutaryl-CoA Dehydrogenase; Isocitrate Dehydrogenase; Lactic Acid; Lysine; Membrane Potential, Mitochondrial; Mice, 129 Strain; Mice, Knockout; Oxygen Consumption | 2015 |
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI).
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Carbohydrate Metabolism; Child; Disease Progression; Energy Metabolism; Female; Finland; Glomerular Filtration Rate; Humans; Lipid Metabolism; Lipids; Lysine; Male; Middle Aged; Nitrites; Phosphatidylcholines; Triglycerides; Young Adult | 2016 |
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Kidney Diseases; Lupus Nephritis; Lysine; Multiple Chronic Conditions; Mutation; Myocardial Infarction; Pancreatitis; Pulmonary Alveolar Proteinosis; Retrospective Studies; Urea Cycle Disorders, Inborn; Young Adult | 2017 |
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Amino Acid Transport System y+L; Codon; Codon, Nonsense; Codon, Terminator; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Point Mutation | 2008 |
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Amino Acid Transport System y+L; Codon; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Mutation, Missense; Point Mutation | 2008 |
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Codon; Fusion Regulatory Protein 1, Light Chains; Humans; Introns; Lysine; Point Mutation; RNA Splicing | 2008 |
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Codon; Fusion Regulatory Protein 1, Light Chains; Gene Duplication; Humans; Lysine; Mutation | 2008 |
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Codon; Exons; Fusion Regulatory Protein 1, Light Chains; Gene Deletion; Humans; Lysine | 2008 |
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Codon; Exons; Fusion Regulatory Protein 1, Light Chains; Gene Deletion; Humans; Lysine | 2008 |
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Bronchoalveolar Lavage Fluid; Child, Preschool; Cholesterol; Granulocyte-Macrophage Colony-Stimulating Factor; Granuloma; Humans; Lung; Lysine; Macrophages, Alveolar; Pulmonary Alveolar Proteinosis; Pulmonary Alveoli; Pulmonary Surfactant-Associated Protein D; Treatment Outcome | 2009 |
[Unusual pulmonary presentation of lysinuric protein intolerance].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Lysine; Pulmonary Alveolar Proteinosis | 2010 |
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Topics: 2-Aminoadipate Transaminase; 2-Aminoadipic Acid; Amino Acid Metabolism, Inborn Errors; Analysis of Variance; Animals; Arginine; Brain; Brain Diseases, Metabolic; Carnitine; Catalase; Glutaryl-CoA Dehydrogenase; Ketoglutaric Acids; Lysine; Mice | 2011 |
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Cell Differentiation; Cells, Cultured; Fusion Regulatory Protein 1, Light Chains; Granulocyte-Macrophage Colony-Stimulating Factor; Humans; Lysine; Macrophages, Alveolar; Male; Monocytes; Pulmonary Alveolar Proteinosis; Young Adult | 2010 |
Early-onset hepatic fibrosis in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Child, Preschool; Citrulline; Fusion Regulatory Protein 1, Light Chains; Humans; Liver; Liver Cirrhosis; Lysine; Male; Mutation; Treatment Outcome | 2011 |
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Arginine; Cationic Amino Acid Transporter 1; Child; Female; Finland; Founder Effect; Fusion Regulatory Protein 1, Light Chains; Gene Expression Profiling; Humans; Lysine; Male; Middle Aged; Molecular Sequence Annotation; Molecular Sequence Data; Mutation; Oligonucleotide Array Sequence Analysis; Ornithine; Sequence Analysis, RNA; Transcriptome; Young Adult | 2012 |
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Arginine; Female; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Macrophages; Male; Mutation; Phagocytosis; Young Adult | 2012 |
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Topics: 2-Aminoadipic Acid; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Coenzymes; Cysteine; Humans; Infant, Newborn; L-Aminoadipate-Semialdehyde Dehydrogenase; Lysine; Metabolic Networks and Pathways; Metal Metabolism, Inborn Errors; Metalloproteins; Models, Biological; Molybdenum Cofactors; Molybdoferredoxin; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Sulfite Oxidase; Sulfites | 2012 |
Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells.
Topics: Amino Acid Metabolism, Inborn Errors; Antioxidants; Apoptosis; Caspase Inhibitors; Cell Line; Disease Progression; Gene Expression; Humans; Kidney Tubules, Proximal; Lysine; Membrane Potential, Mitochondrial; NADPH Oxidases; Protein Subunits; Reactive Oxygen Species; Renal Insufficiency, Chronic | 2012 |
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Brain; Brain Diseases, Metabolic; Child; Child, Preschool; Dietary Supplements; Female; Glutaryl-CoA Dehydrogenase; Humans; Infant; Lysine; Male; Treatment Outcome | 2012 |
Marked reduction of Na(+), K(+)-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic; Creatine Kinase; Disease Models, Animal; Electron Transport; Glutaryl-CoA Dehydrogenase; Heart; Ketoglutarate Dehydrogenase Complex; Lysine; Mice; Mice, Knockout; Muscle, Skeletal; Myocardium; Sodium-Potassium-Exchanging ATPase | 2012 |
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Child; Child, Preschool; Demography; Female; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Lysine; Magnetic Resonance Imaging; Male; Neonatal Screening; Nutritional Status; Young Adult | 2012 |
Dietary practices in glutaric aciduria type 1 over 16 years.
Topics: Adolescent; Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Biomarkers; Brain Diseases; Brain Diseases, Metabolic; Carnitine; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Proteins; Dietetics; Disabled Persons; Early Diagnosis; Enteral Nutrition; Female; Glucose; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Male; Practice Patterns, Physicians'; Severity of Illness Index; Tryptophan; United Kingdom; Young Adult | 2012 |
Glutaric aciduria type III: a distinctive non-disease?
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromosome Deletion; Diarrhea; Fasting; Female; Glutarates; Humans; Liver; Lysine; Male; Pipecolic Acids; Riboflavin | 2002 |
Late-onset form of beta-electron transfer flavoprotein deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carnitine; Cysteine; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Electrons; Exons; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Gene Deletion; Glutarates; Humans; Infant, Newborn; Iron-Sulfur Proteins; Lysine; Mutation, Missense; Oxidoreductases Acting on CH-NH Group Donors; Oxygen; Phenotype | 2003 |
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Cluster Analysis; Gene Frequency; Genetic Carrier Screening; Genotype; Haplotypes; Humans; Japan; Lysine; Mass Screening; Monte Carlo Method; Mutation; Pedigree | 2003 |
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance.
Topics: Absorption; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Humans; Intestinal Absorption; Kidney Tubules; Kinetics; Lysine; Male; Nitrogen; Ornithine; Reference Values; Urea | 2003 |
USE OF amino acids as dietary supplements; amino acid imbalance and lysine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Dietary Supplements; Lysine | 1956 |
[Effects exercised on the rat by the exclusive deprivation of sulfurated amino acids, of lysine or of tryptophan on the power to concentrate iodides by the thyroid in the absence of any dietary iodine].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Antifibrinolytic Agents; Iodides; Iodine; Lysine; Rats; Thyroid Gland; Tryptophan; Viscera | 1961 |
AMINOACIDURIA AFTER DIETARY LOADING IN HUMAN SUBJECTS.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystine; Diet; Dietary Proteins; Humans; Kidney; Lysine; Nitrogen; Ornithine; Proteins; Renal Aminoacidurias; Sulfur; Urine | 1964 |
CYSTINURIA IN SWEDEN. X. QUANTITATIVE STUDIES ON THE URINARY AMINO ACID EXCRETION IN CYSTINURICS.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Chromatography; Cystinuria; Geriatrics; Humans; Lysine; Nephrectomy; Ornithine; Renal Aminoacidurias; Sulfhydryl Compounds; Sweden; Taurine; Urinary Calculi | 1964 |
CYSTINURIA IN SWEDEN. VIII. A CASE OF COELIAC DISEASE ASSOCIATED WITH CYSTINE-LYSINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Ataxia; Celiac Disease; Chromatography; Creatine; Creatinine; Cystinuria; Electrophoresis; Glucose Tolerance Test; Humans; Infant; Intestine, Small; Intestines; Lysine; Muscle Spasticity; Ornithine; Proteins; Psychomotor Disorders; Renal Aminoacidurias; Sweden; Urine; Vitamin A; Xylose | 1964 |
DEFECTIVE UPTAKE OF BASIC AMINO ACIDS AND L-CYSTINE BY INTESTINAL MUCOSA OF PATIENTS WITH CYSTINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Basic; Arginine; Carbon Isotopes; Cystine; Cystinuria; Duodenum; Humans; Intestinal Absorption; Intestinal Mucosa; Leucine; Lysine; Mucous Membrane; Ornithine; Phenylalanine | 1964 |
HYPERLYSINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Alcohols; Aminobutyrates; Anemia; Arginine; Asthenia; Blood Chemical Analysis; Child; Chromatography; Genetics, Medical; Growth; Humans; Hyperlysinemias; Infant; Lysine; Maple Syrup Urine Disease; Muscular Diseases; Ornithine; Seizures; Urine | 1964 |
[HYPERLYSINEMIA].
Topics: Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Blood; Humans; Hyperlysinemias; Lysine | 1965 |
[Clinical history of a two and one-half year old child who has already had 4 laparotomies for calculosis of the urinary tract. Cystine an lysine in the urine in the framework of aminoaciduria in childhood].
Topics: Amino Acid Metabolism, Inborn Errors; Body Fluids; Child; Cystinuria; Humans; Infant; Laparotomy; Lithiasis; Lysine; Urinary Calculi | 1960 |
Neonatal lupus and a seronegative mother.
Topics: Amino Acid Metabolism, Inborn Errors; Antibodies, Antinuclear; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Lupus Erythematosus, Systemic; Lysine | 2004 |
[L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Cerebellar Diseases; Child; Child, Preschool; Female; Glutarates; Humans; Klinefelter Syndrome; Lysine; Magnetic Resonance Imaging; Male | 2005 |
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Amino Acid Transport Systems, Basic; Animals; Arginine; Cell Line; Child, Preschool; Dogs; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Male; Mutation; Oocytes; Xenopus laevis | 2005 |
Increased NO production in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Cells, Cultured; Child; Citrulline; Fibroblasts; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Nitrates; Nitric Oxide; Nitric Oxide Synthase; Nitric Oxide Synthase Type II; Nitrites | 2005 |
Recurrent stupor due to lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Coma; Diet, Protein-Restricted; Female; Humans; Lysine | 2005 |
Amino acid changes during successful pregnancy in a case of lysinuric protein insufficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Biomarkers; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Lysine; Ornithine; Pregnancy; Pregnancy Complications | 2006 |
A diet-induced mouse model for glutaric aciduria type I.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Blood-Brain Barrier; Capillary Permeability; Corpus Striatum; Diet; Dietary Proteins; Disease Models, Animal; Female; Glutarates; Lysine; Magnetic Resonance Imaging; Male; Mice; Mice, Inbred C57BL; Neurons; Survival Analysis; Tissue Culture Techniques | 2006 |
Dietary compliance in ornithine aminotransferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Female; Humans; Lysine; Male; Ornithine-Oxo-Acid Transaminase; Patient Compliance; Retinal Degeneration | 2006 |
Growth hormone deficiency in a patient with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Growth Disorders; Human Growth Hormone; Humans; Lysine | 2006 |
Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance.
Topics: Alendronate; Amino Acid Metabolism, Inborn Errors; Bone Density Conservation Agents; Humans; Lysine; Osteoporosis | 2006 |
Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Diet; Disease Models, Animal; Glutarates; Lysine; Mice | 2006 |
Long-term oral lysine supplementation in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Calcium; Child; Child, Preschool; Chromatography, Ion Exchange; Citrulline; Dietary Supplements; Female; Finland; Humans; Long-Term Care; Lysine; Male; Middle Aged; Phosphates | 2007 |
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+; Amino Acid Transport System y+L; Animals; Arginine; Dietary Proteins; Disease Models, Animal; Down-Regulation; Fetal Growth Retardation; Gene Expression; Gene Expression Profiling; Genotype; Insulin-Like Growth Factor I; Intestinal Mucosa; Intestines; Liver; Lysine; Metabolic Networks and Pathways; Mice; Mice, Inbred C57BL; Mice, Knockout; Oligonucleotide Array Sequence Analysis; Phenotype; Polymerase Chain Reaction; Urea | 2007 |
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bone Marrow Examination; Child; Cystine; Humans; Lysine; Male; Myeloid Progenitor Cells; Ornithine; Phagocytosis | 2007 |
Lysinuric protein intolerance: one gene, many problems.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+; Amino Acid Transport System y+L; Animals; Fusion Regulatory Protein 1, Light Chains; Gene Expression Profiling; Genotype; Humans; Lysine; Mice; Mice, Knockout; Mutation; Oligonucleotide Array Sequence Analysis; Phenotype; Sodium-Phosphate Cotransporter Proteins, Type IIb | 2007 |
Nutrient intake in lysinuric protein intolerance.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrulline; Diet, Protein-Restricted; Dietary Supplements; Energy Intake; Female; Finland; Humans; Infant; Lysine; Male; Malnutrition; Middle Aged; Nutrition Assessment; Nutrition Policy; Nutritional Status; Phenylbutyrates; Sodium Benzoate | 2007 |
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Citrullinemia; DNA Mutational Analysis; Female; Fusion Regulatory Protein 1, Light Chains; Humans; Lithuania; Lysine; Mutation | 2007 |
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.
Topics: Aging; Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Child; Diet; Disease Models, Animal; gamma-Aminobutyric Acid; Genetic Predisposition to Disease; Glucose; Glutamic Acid; Glutarates; Glutaryl-CoA Dehydrogenase; Homoarginine; Humans; Lysine; Mice; Mice, Knockout; Mitochondria; Neurons; Nuclear Magnetic Resonance, Biomolecular; Tryptophan | 2007 |
Facts, fantasies and fun in epithelial physiology.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Amino Acid Transport Systems; Animals; Awards and Prizes; Cell Polarity; Drosophila Proteins; Epithelial Cells; Fusion Regulatory Protein-1; Humans; Intestinal Mucosa; Kinetics; Lysine; Models, Molecular; Protein Conformation; Protons; Signal Transduction; Symporters | 2008 |
Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Dietary Supplements; Female; Humans; Lysine; Male; Middle Aged | 2008 |
Lysine intolerance with periodic ammonia intoxication.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Urea Nitrogen; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Infant, Newborn; Liver; Lysine; Male; Oxidoreductases | 1967 |
Further studies on hyperlysinemia associated with retardation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood Chemical Analysis; Child, Preschool; Chromatography; Growth; Humans; Intellectual Disability; Lysine; Male; Radionuclide Imaging | 1967 |
A case of hyperlysinemia: biochemical and clinical observations.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Autoanalysis; Child, Preschool; Chromatography, Paper; Citrulline; Humans; Intellectual Disability; Lysine; Male; Ornithine | 1967 |
Renal clearance of cystathionine in homozygous and heterozygous cystathioninuria, cystinuria, and the normal state.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Cystinuria; Glycine; Humans; Kidney; Lysine; Male; Methionine; Renal Tubular Transport, Inborn Errors | 1967 |
Hyperglycinemia with ketoacidosis and leukopenia. Metabolic studies on the nature of the defect.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Diet Therapy; Dietary Proteins; Glycine; Humans; Infant; Isoleucine; Leucine; Leukopenia; Lysine; Male; Valine | 1967 |
Enzymes of urea synthesis in familial protein intolerance with deficient transport of basic amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Child; Dietary Proteins; Humans; Ligases; Liver; Lyases; Lysine; Ornithine Carbamoyltransferase; Renal Aminoacidurias; Urea | 1967 |
Basolateral-membrane transport defect for lysine in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Biological Transport; Cell Membrane; Child; Child, Preschool; Citrulline; Female; Glycine; Humans; Infant; Intestinal Mucosa; Kidney; Liver; Lysine; Male | 1980 |
Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Diarrhea; Humans; Lysine; Nutrition Disorders; Renal Tubular Transport, Inborn Errors | 1980 |
Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Epithelium; Humans; Jejunum; Lysine | 1980 |
Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystinuria; Electrophoresis, Cellulose Acetate; England; Female; Glycine; Glycosaminoglycans; Humans; Intellectual Disability; Lysine; Male; Middle Aged; Phenylketonurias | 1983 |
Oral administration of urea cycle intermediates in lysinuric protein intolerance: effect on plasma and urinary arginine and ornithine.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citrulline; Female; Humans; Intestinal Absorption; Lysine; Ornithine; Urea | 1983 |
Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrulline; Female; Humans; Lysine; Male | 1983 |
[A patient with persistent hyperlysinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Intellectual Disability; Lysine; Male; Muscle Hypertonia | 1983 |
"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Cell Membrane; Child; Citrulline; Female; Humans; Liver; Lysine; Male; Mitochondria, Liver; Ornithine | 1983 |
The prognosis of hyperlysinemia: an interim report.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Intellectual Disability; Lysine; Male; Oxidoreductases Acting on CH-NH Group Donors; Pregnancy; Prognosis; Saccharopine Dehydrogenases | 1983 |
[Lysinuric protein intolerance--two patients in a family with loss of consciousness and growth retardation].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Lysine; Male | 1983 |
Hyperargininemia: effect of ornithine and lysine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Drug Therapy, Combination; Female; Humans; Lysine; Ornithine | 1983 |
[Lysinuric protein intolerance].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Consanguinity; Dietary Proteins; Female; Ferritins; Humans; Infant; L-Lactate Dehydrogenase; Lysine; Ornithine; Turkey | 1983 |
Hyperammonemia in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Cystinuria; Humans; Lysine; Male; Ornithine | 1984 |
Growth hormone studies in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Arginine; Child; Dietary Proteins; Female; Growth Disorders; Growth Hormone; Humans; Lysine; Male | 1984 |
Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.
Topics: Amino Acid Metabolism, Inborn Errors; Electron Transport; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Fatty Acids; Fibroblasts; Flavin Mononucleotide; Flavin-Adenine Dinucleotide; Flavoproteins; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Iron-Sulfur Proteins; Lysine; Multienzyme Complexes; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Oxidoreductases Acting on CH-NH Group Donors; Riboflavin | 1984 |
Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cattle; Chromatography, DEAE-Cellulose; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Humans; Lysine; Mitochondria, Liver; Molecular Weight; Multienzyme Complexes; Oxidoreductases Acting on CH-NH Group Donors; Papio; Saccharopine Dehydrogenases | 1984 |
A patient with alpha-ketoadipic and alpha-aminoadipic aciduria.
Topics: 2-Aminoadipic Acid; Adipates; Amino Acid Metabolism, Inborn Errors; Amino Acids, Dicarboxylic; Child; Dietary Proteins; Fibroblasts; Humans; Lysine; Male; Pipecolic Acids; Tryptophan | 1984 |
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Topics: Acyl-CoA Dehydrogenases; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Infant, Newborn; Lysine; Male; Methylmalonic Acid; Middle Aged; Pentanoic Acids; Propionates | 1984 |
Urinary purines and pyrimidines in patients with hyperammonemia of various origins.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschool; Female; Humans; Infant, Newborn; Lysine; Male; Ornithine Carbamoyltransferase Deficiency Disease; Purines; Pyrimidines; Reye Syndrome | 1980 |
Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport, Active; Biopsy; Fasting; Humans; In Vitro Techniques; Jejunum; Lysine; Mathematics; Sodium | 1980 |
Enzyme inhibition as a possible cause of secondary increases in metabolite levels in patients with inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Ammonium Sulfate; Animals; Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Cattle; Citrulline; Ligases; Liver; Lyases; Lysine; Rats; Swine | 1980 |
Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Athetosis; Brain; Brain Chemistry; Child, Preschool; Chorea; gamma-Aminobutyric Acid; Glutamate Decarboxylase; Glutarates; Humans; Infant; Lysine; Male | 1980 |
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Complement C3; Female; Growth; Hemoglobins; Humans; Infant; Infant, Newborn; Lysine; Male; Serum Albumin | 1980 |
Ferritinemia with subnormal iron stores in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Bone Marrow; Child; Child, Preschool; Female; Ferritins; Half-Life; Histocytochemistry; Humans; Infant; Iron; Liver; Lysine; Male | 1981 |
Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Cell Count; Child; Child, Preschool; Female; Ferritins; Follow-Up Studies; Hemoglobinometry; Humans; Lysine; Osmotic Fragility | 1980 |
Increase in thyroxine-binding globulin (TBG) in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diiodothyronines; Female; Humans; Lysine; Male; Thyroxine; Thyroxine-Binding Proteins; Triiodothyronine; Triiodothyronine, Reverse | 1981 |
Analysis for free amino acids in pre-breakfast urine samples.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Fasting; Humans; Lysine | 1981 |
Hyperlysinemia without clinical findings.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Lysine; Male | 1981 |
[Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Female; Humans; Infant; Lysine; Male; Ornithine; Time Factors | 1981 |
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Germany, West; Homocystinuria; Humans; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Mass Screening; Phenotype; Phenylketonurias; Time Factors; Tyrosine | 1981 |
[A case of lysinuric protein intolerance with mental-physical retardation, intermittent stupor and hemiparesis (author's transl)].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Growth Disorders; Hemiplegia; Humans; Intellectual Disability; Lysine; Male; Recurrence; Unconsciousness | 1982 |
Turnover of the fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia. Relevance to termination of dietary treatment in human phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Half-Life; Humans; Lysine; Myelin Proteins; Myelin Sheath; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains | 1982 |
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Arginine; Base Sequence; DNA Primers; Food, Fortified; Genotype; Gyrate Atrophy; Humans; Infant; Lysine; Mammals; Mice; Mice, Mutant Strains; Molecular Sequence Data; Ornithine; Ornithine-Oxo-Acid Transaminase; Phenotype; Polymerase Chain Reaction; Retina; Retinal Degeneration | 1995 |
Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystinuria; Diabetes Mellitus, Type 1; Female; Fluorescein Angiography; Gyrate Atrophy; Humans; Hyperopia; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase | 1994 |
Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Citrulline; Humans; Infant, Newborn; Lysine; Male; Ornithine | 1994 |
Interstitial lung disease in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Chronic Disease; Humans; Lung Diseases, Interstitial; Lysine | 1994 |
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Fatal Outcome; Female; Glomerulonephritis; Humans; Immunohistochemistry; Kidney; Lung; Lysine; Male; Microscopy, Electron; Pulmonary Alveolar Proteinosis | 1994 |
Abnormal pulmonary macrophages in lysinuric protein intolerance. Ultrastructural, morphometric, and x-ray microanalytic study.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Bronchoalveolar Lavage Fluid; Electron Probe Microanalysis; Humans; Lung; Lysine; Macrophages, Alveolar; Middle Aged; Ornithine; Pulmonary Alveolar Proteinosis | 1994 |
Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Hemolytic; Bone Marrow Diseases; Child, Preschool; Humans; Infant; Kidney Diseases; Lysine; Male; Prognosis; Pulmonary Fibrosis; Time Factors | 1993 |
Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cholesterol; Female; Granuloma, Foreign-Body; Humans; Lung Diseases; Lysine; Pulmonary Fibrosis | 1993 |
Pulmonary manifestations in lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Finland; Follow-Up Studies; Humans; Lung; Lung Diseases, Interstitial; Lysine; Male; Radiography; Respiratory Insufficiency; Retrospective Studies; Time Factors | 1993 |
Osteoporosis in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biological Transport; Bone and Bones; Child; Child, Preschool; Collagen; Dietary Proteins; Female; Finland; Humans; Hydroxyproline; Lysine; Male; Osteoporosis | 1993 |
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.
Topics: Adolescent; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; Child; Female; Glutarates; Humans; Lysine; Magnetic Resonance Imaging; Male | 1993 |
Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Bone and Bones; Bone Development; Child; Child, Preschool; Dietary Proteins; Female; Follow-Up Studies; Fractures, Bone; Humans; Lysine; Male; Middle Aged; Ornithine; Osteoporosis; Radiography | 1993 |
[Remember hereditary metabolic diseases in children in which no satisfactory diagnosis can be established].
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Biotinidase; Child; Child, Preschool; Coenzymes; Female; Humans; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Molybdenum Cofactors; Multiple Carboxylase Deficiency; Pteridines | 1993 |
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Lung; Lung Diseases; Lysine; Male; Radionuclide Imaging; Tomography, X-Ray Computed | 1996 |
Glutaric aciduria type 1 in adulthood.
Topics: Amino Acid Metabolism, Inborn Errors; Dystonia; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Middle Aged; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Tryptophan | 1996 |
Necropsy findings in lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Female; Follow-Up Studies; Glomerulonephritis, IGA; Humans; Liver Cirrhosis; Lysine; Ornithine | 1996 |
Immunological abnormality in patients with lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Female; Humans; Immune System Diseases; Lysine; Male; Nitric Oxide | 1995 |
Lysinuric protein intolerance with thymic hypoplasia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Female; Humans; Infant; Lysine; Ornithine; Thymus Gland | 1996 |
Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Immune Complex Diseases; Kidney; Lung; Lupus Erythematosus, Systemic; Lysine; Male; Microscopy, Electron; Proteins | 1996 |
Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.
Topics: Amino Acid Metabolism, Inborn Errors; Atrophy; Cisterna Magna; Developmental Disabilities; Diagnosis, Differential; Female; Frontal Lobe; Glutarates; Glutaryl-CoA Dehydrogenase; Hematoma, Subdural; Humans; Infant; Lysine; Magnetic Resonance Imaging; Movement Disorders; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Psychomotor Performance; Temporal Lobe; Tomography, X-Ray Computed; Tryptophan | 1996 |
Sudden infant death and lysinuric protein intolerance.
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Consanguinity; Diagnosis, Differential; Fatty Acid Desaturases; Female; Humans; Infant; Lysine; Sudden Infant Death | 1996 |
[Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement].
Topics: Amino Acid Metabolism, Inborn Errors; Bone Marrow; Follow-Up Studies; Humans; Infant, Newborn; Lysine; Macrophage Activation; Male | 1996 |
Lysinuric protein intolerance presenting as coma in a middle-aged man.
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Coma; Diagnosis, Differential; Follow-Up Studies; Humans; Lysine; Male | 1996 |
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Chromosome Mapping; Chromosomes, Human, Pair 14; Confidence Intervals; Female; Finland; Genetic Markers; Humans; Linkage Disequilibrium; Lysine; Male; Microsatellite Repeats; Ornithine; Pedigree; Phenotype | 1997 |
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Carrier Proteins; Chromosome Mapping; Chromosomes, Human, Pair 8; Genetic Linkage; Humans; Lysine; Membrane Proteins; Microsatellite Repeats | 1997 |
Bone marrow hemophagocytosis and immunological abnormalities in a patient with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Bone Marrow Cells; Diagnosis, Differential; Humans; Infant; Lysine; Male; Phagocytosis | 1997 |
Lysinuric protein intolerance masquerading as celiac disease: a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Celiac Disease; Child, Preschool; Diagnosis, Differential; Diarrhea; Duodenum; Growth Disorders; Humans; Hypoproteinemia; Lysine; Male | 1998 |
Lysinuric protein intolerance and systemic lupus erythematosus.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Antibodies, Antinuclear; Fatal Outcome; Female; Humans; Lupus Erythematosus, Systemic; Lysine | 1998 |
Intravenous immune globulin in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Humans; Immunoglobulins, Intravenous; Lysine; Male; Ornithine | 1998 |
Varicella and varicella immunity in patients with lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Chickenpox; Child; Child, Preschool; Humans; Infant; Lysine; Male; Ornithine | 1998 |
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
Topics: Abnormalities, Multiple; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Transport Systems, Basic; Animals; Blotting, Northern; Carrier Proteins; Chromosome Deletion; Chromosome Mapping; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Dinucleotide Repeats; Female; Humans; Lysine; Membrane Proteins; Molecular Sequence Data; Oocytes; Sequence Analysis, DNA; Syndrome; Tetralogy of Fallot; Velopharyngeal Insufficiency; Xenopus | 1998 |
A new method for evaluation and dietary therapy of congenital: deficiencies of amino acid metabolic enzymes. Linear system analysis and optimization of feedback inputs for the metabolic pathways of lysine, methionine and isoleucine.
Topics: Amino Acid Metabolism, Inborn Errors; Enzymes; Evaluation Studies as Topic; Feedback; Humans; Isoleucine; Lysine; Methionine; Methods; Models, Theoretical | 1998 |
Identification of a familial mutation associated with GABA-transaminase deficiency disease.
Topics: 4-Aminobutyrate Transaminase; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Animals; Arginine; Enzyme Activation; Humans; Lysine; Molecular Sequence Data; Mutation, Missense; Pedigree; Rats; Sequence Homology, Amino Acid | 1998 |
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Immunosuppressive Agents; Lupus Erythematosus, Systemic; Lysine; Male | 1998 |
Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Transport Systems; Amino Acids; Antigens, CD; Base Sequence; Biological Transport; Carrier Proteins; DNA, Complementary; Fusion Regulatory Protein-1; Gene Expression Regulation; Humans; Lysine; Molecular Sequence Data; Protein Binding; Sequence Homology, Amino Acid | 1998 |
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bone Marrow Cells; Child; Child, Preschool; Diagnosis, Differential; Flow Cytometry; Histiocytosis, Non-Langerhans-Cell; Humans; Infant; Lymphocyte Subsets; Lysine; Ornithine | 1999 |
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Transport Systems, Basic; Animals; Arginine; Biological Transport; Carrier Proteins; Deoxyribonucleases, Type II Site-Specific; Female; Finland; Heterozygote; Humans; Introns; Leucine; Lysine; Male; Membrane Proteins; Molecular Sequence Data; Mutation; Oocytes; Sequence Deletion; Xenopus | 1999 |
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Transport Systems, Basic; Antigens, CD; Biological Transport; Blotting, Southern; Carrier Proteins; Chromosomes, Artificial, Yeast; Cloning, Molecular; Consanguinity; Expressed Sequence Tags; Female; Finland; Founder Effect; Fusion Regulatory Protein-1; Haplotypes; Homozygote; Humans; Italy; Lysine; Male; Membrane Proteins; Molecular Sequence Data; Mutation; Pedigree | 1999 |
B and T cell immunity in patients with lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; B-Lymphocytes; Child; Child, Preschool; Female; Humans; Immune Tolerance; Immunoglobulin G; Immunoglobulins, Intravenous; Lysine; Male; Middle Aged; T-Lymphocytes; Vaccination | 1999 |
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.
Topics: Amino Acid Metabolism, Inborn Errors; Chromosome Mapping; Chromosomes, Human, Pair 14; Humans; In Situ Hybridization, Fluorescence; Lysine; Multigene Family; Receptors, Antigen, T-Cell | 1999 |
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Chorionic Villi Sampling; Chromosome Mapping; Chromosomes, Human, Pair 14; DNA Primers; Female; Fetal Diseases; Genetic Markers; Haplotypes; Humans; Lysine; Pregnancy; Pregnancy Trimester, First; Receptors, Antigen, T-Cell, alpha-beta | 1999 |
Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antithrombin III; Arginine; Blood Coagulation Disorders; Citrulline; Cyclic GMP; Humans; Lysine; Male; Nitric Oxide; Nitroglycerin; Ornithine; Peptide Hydrolases; Platelet Aggregation; Thrombosis | 1999 |
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Transport Systems, Basic; Animals; Antigens, CD; Carrier Proteins; Contig Mapping; DNA, Complementary; Fusion Regulatory Protein-1; Genetic Markers; Humans; Lysine; Membrane Proteins; Mice; Molecular Sequence Data; Multigene Family; Nucleic Acid Hybridization; Rats; Sequence Alignment; Sequence Homology, Amino Acid; Xenopus | 1999 |
Treatment of hemophagocytic lymphohistiocytosis with cyclosporin A and steroids in a boy with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Cyclosporine; Glucocorticoids; Histiocytosis, Non-Langerhans-Cell; Humans; Immunosuppressive Agents; Lysine; Male; Methylprednisolone; Prednisone | 2000 |
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
Topics: 5' Untranslated Regions; Alleles; Alternative Splicing; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Carrier Proteins; DNA Mutational Analysis; Exons; Female; Humans; Introns; Lysine; Male; Membrane Proteins | 2000 |
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Antigens, CD; Biological Transport; Carrier Proteins; Cations; Child; DNA, Complementary; Erythrocytes; Fusion Regulatory Protein-1; Gene Expression; Humans; K562 Cells; Lysine; Oligonucleotide Probes; RNA, Messenger | 2000 |
Effect of lysine infusion on urea cycle in lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Amino Acids; Ammonia; Carrier Proteins; Female; Humans; Lysine; Male; Membrane Proteins; Middle Aged; Mutation; Orotic Acid; Urea | 2000 |
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Carrier Proteins; Founder Effect; Genetic Carrier Screening; Humans; Infant, Newborn; Japan; Lysine; Pedigree | 2000 |
Clinical features of organic acidemias: experience at a tertiary care center in Mumbai.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Amino Acids, Dicarboxylic; Developing Countries; Humans; India; Lactic Acid; Lysine; Retrospective Studies | 2001 |
[Glutaric aciduria type I: an organic acidemia without acidosis with severe movement disorders].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Carnitine; Child, Preschool; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant; Lysine; Movement Disorders; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Phenotype; Tryptophan | 2001 |
Clinics for adults with hereditary metabolic diseases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Health Services; Humans; Lysine | 2002 |
Familial hyperlysinaemia due to L-lysine alpha-ketoglutarate reductase deficiency: results of attempted treatment.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Dietary Proteins; Female; Humans; Lysine; Male; Oxidoreductases Acting on CH-NH Group Donors; Saccharopine Dehydrogenases | 1978 |
Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria.
Topics: 2-Aminoadipic Acid; Amino Acid Metabolism, Inborn Errors; Amino Acids, Dicarboxylic; Child; Female; Gas Chromatography-Mass Spectrometry; Humans; Lysine; Pyridoxine; Thiamine | 1978 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biopsy; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschool; Citrulline; Dietary Proteins; Female; Humans; Leukocytes; Liver; Lysine; Male; Microscopy, Electron; Mitochondria, Liver; Ornithine; Phosphotransferases | 1975 |
Metabolic studies in two families with hyperornithinemia and gyrate atrophy of choroid and retina.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Child, Preschool; Choroid; Female; Glutamates; Humans; Lysine; Male; Middle Aged; Ornithine; Proline; Retina | 1979 |
Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue.
Topics: 2-Aminoadipic Acid; Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Baclofen; Child; Diet Therapy; Dietary Proteins; Female; Glutarates; Humans; Lysine; Male; Oxidoreductases; Riboflavin; Tryptophan | 1979 |
L-Glutaric acidemia: investigation of a patient and his family.
Topics: Amino Acid Metabolism, Inborn Errors; Consanguinity; Dystonia; Glutarates; Humans; Infant; Intellectual Disability; Lysine; Male; Oxidoreductases; Pedigree | 1979 |
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Liver; Lysine; Oxidoreductases Acting on CH-NH Group Donors; Saccharopine Dehydrogenases; Terminology as Topic | 1979 |
[Cystine-lysine-ornithine-argininuria. Current genetic and clinico-therapeutic problems].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Arginine; Child; Child, Preschool; Cystinuria; Humans; Kidney Calculi; Lysine; Male; Ornithine; Tiopronin | 1979 |
Intermittently progressive dyskinetic syndrome in glutaric aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child; Child, Preschool; Female; Glutarates; Humans; Infant; Infant, Newborn; Language Disorders; Lysine; Movement Disorders; Rabbits; Tryptophan | 1977 |
[Hereditary persistant hyperlysinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Lysine; Male | 1977 |
Arginase deficiency in multiple tissues in argininemia.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginase; Arginine; Blood Transfusion; Child; Erythrocytes; Female; Humans; Hyperargininemia; Lysine | 1978 |
[Lysinuric protein intolerance, an hereditary defect of amino acid transport].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Biological Transport; Child; Humans; Lysine; Male | 1978 |
Amino acid transport properties of erythrocytes from normal newborn lambs and lambs with an inherited defect in amino acid transport.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Animals, Newborn; Arginase; Arginine; Erythrocytes; Glutathione; Lysine; Ornithine; Phenylalanine; Sheep | 1978 |
[Hyperlysinemia and lysine intolerance].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Humans; Lysine; Male | 1978 |
The mechanism of hyperammonemia in congenital lysinuria.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Female; Humans; Lysine; Ornithine | 1979 |
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginine; Argininosuccinate Synthase; Citrulline; Fibroblasts; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Lysine; Male; Methionine; Phenylalanine; Threonine; Tryptophan; Valine | 1977 |
Glutaric aciduria: clinical and laboratory findings in two brothers.
Topics: Amino Acid Metabolism, Inborn Errors; Cerebral Palsy; Child; Child, Preschool; Coenzyme A; Consanguinity; Glutarates; Humans; Hydroxylysine; Infant; Infant, Newborn; Lysine; Male; Oxidoreductases; Tryptophan | 1977 |
Glutaric aciduria: biochemical and morphologic considerations.
Topics: Amino Acid Metabolism, Inborn Errors; Autopsy; Brain; Brain Chemistry; Child; Glutarates; Humans; Hydroxylysine; Infant; Kidney; Liver; Lysine; Male; Mitochondria, Liver; Myocardium; Oxidoreductases; Tryptophan | 1977 |
Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Female; Humans; Infant; Lysine; Ornithine | 1977 |
Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Coma; Dietary Proteins; Electroencephalography; Humans; Lysine; Male; Ornithine | 1977 |
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Argininosuccinate Synthase; Citrulline; Humans; Hyperargininemia; Intellectual Disability; Ligases; Liver; Lysine; Male | 1977 |
[Congenital hyperlysin-arginin-ornithinuria in a mentally retarded child (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport, Active; Child, Preschool; Humans; Intellectual Disability; Kidney; Lysine; Male; Ornithine | 1977 |
[Familial hyperlysinemia with mental retardation, convulsion & muscular hypertonia (author's transl)].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Lysine; Male; Muscle Tonus; Seizures | 1977 |
Multiple enzyme defects in familial hyperlysinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Fibroblasts; Humans; Liver; Lysine; Oxidoreductases Acting on CH-NH Group Donors; Saccharopine Dehydrogenases; Skin | 1976 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Diagnosis, Differential; Humans; Hyperargininemia; Infant, Newborn; Infant, Newborn, Diseases; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Syndrome; Urea | 1976 |
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency.
Topics: Acid-Base Imbalance; Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Urea Nitrogen; Dietary Proteins; Female; Glutamates; Humans; Infant, Newborn; Lysine; Ornithine Carbamoyltransferase Deficiency Disease; Propionates; Urine | 1976 |
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Anorexia; Arginase; Arginine; Citrulline; Erythrocytes; Growth Disorders; Humans; Intellectual Disability; Lysine; Male | 1976 |
Hyperdibasicaminoaciduria and hyperammonemia in familial protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Ammonia; Arginine; Child, Preschool; Cystinuria; Humans; Intestinal Absorption; Intestinal Mucosa; Lysine; Male; Ornithine; Renal Aminoacidurias | 1976 |
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.
Topics: Adipates; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Dicarboxylic Acids; Female; Humans; Hydroxy Acids; Infant; Infant, Newborn; Keto Acids; Lysine; Male | 1975 |
Alpha-ketoadipic aciduria: degradation studies with fibroblasts,.
Topics: Adipates; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Female; Fibroblasts; Humans; Keto Acids; Ketoglutaric Acids; Kinetics; Lysine; Pregnancy; Time Factors | 1975 |
[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Child; Cystinuria; Histidine; Humans; Intellectual Disability; Kidney Tubules; Levodopa; Lysine; Male; Parkinson Disease | 1975 |
Diamino acid transport into granulocytes and liver slices of patients with lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Arginine; Biopsy; Child; Child, Preschool; Female; Granulocytes; Humans; Isotope Labeling; Kinetics; Leukocytes; Liver; Lysine; Male; Middle Aged; Ornithine | 1975 |
Lysinuric protein intolerance.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Birth Weight; Child; Child, Preschool; Dietary Proteins; Eye Diseases; Female; Humans; Infant; Intellectual Disability; Intestinal Absorption; Liver; Lysine; Male; Nitrogen; Ornithine; Proteins; Renal Aminoacidurias; Urea | 1975 |
Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation.
Topics: Adipates; Adolescent; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Keto Acids; Lysine; Male; Tryptophan | 1975 |
[Results of a period of research (1967-1974) in the field of disorders of transport amino acid and metabolism using chromatographic, electrophoretic and dosimetric methods].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Electrophoresis; Female; Glycine; Humans; Hydroxyproline; Infant; Lysine; Male; Proline | 1975 |
Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: Treatment with arginine, lysine, and citrulline.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Citrulline; Female; Growth Disorders; Humans; Lysine | 1975 |
Aminoacidopathies among institutionalised mentally retarded in Kuwait.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Female; Homocystinuria; Humans; Intellectual Disability; Kuwait; Lysine; Male; Phenylketonurias | 1992 |
Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Argininosuccinate Synthase; Dietary Proteins; Female; Humans; Liver; Lysine | 1992 |
Cerebellar ataxia with glutamic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Cerebellum; Cystinuria; Female; Glutamates; Glutamic Acid; Humans; Kidney Tubules; Lysine; Magnetic Resonance Imaging; Ornithine; Spinocerebellar Degenerations | 1991 |
Antenatal diagnosis of inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Humans; Infant, Newborn; Lysine; Prenatal Diagnosis | 1992 |
A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant; Italy; Lysine; Male | 1991 |
Lysine transport in human kidney.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Humans; Kidney Tubules; Lysine; Male; Ornithine | 1990 |
Immunological abnormalities in a patient with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Antibodies, Antinuclear; Child; Dietary Proteins; Female; Humans; Hypergammaglobulinemia; Immunoglobulins; Lupus Erythematosus, Systemic; Lysine; Neutrophils | 1987 |
Homocitrullinuria and homoargininuria in hyperargininaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Homoarginine; Humans; Lysine; Male | 1988 |
Homocitrullinuria and homoargininuria in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citrulline; Female; Homoarginine; Humans; Kidney; Lysine; Male; Ornithine | 1989 |
Dietary treatment of hyperlysinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant, Newborn; Lysine; Male; Pedigree | 1989 |
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Heterozygote; Homozygote; Humans; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase; Oxidation-Reduction; Proteins; Syndrome | 1989 |
Lysinuric protein intolerance: a rare cause of childhood osteoporosis.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Lysine; Osteoporosis | 1986 |
The significance of hyperpipecolatemia in Zellweger syndrome.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Infant; Infant, Newborn; Kidney Diseases; Liver Diseases; Lysine; Pipecolic Acids; Syndrome | 1986 |
[A case of lysinuric protein intolerance with intermittent stupor looking like psychomotor seizure in adulthood].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Epilepsy, Temporal Lobe; Female; Humans; Lysine; Malabsorption Syndromes; Unconsciousness | 1986 |
A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Fibroblasts; Humans; Leucine; Liver; Lysine; Male; Mitochondria; Saccharopine Dehydrogenases | 1986 |
Waste nitrogen excretion via amino acid acylation: benzoate and phenylacetate in lysinuric protein intolerance.
Topics: Acylation; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Benzoates; Benzoic Acid; Child; Child, Preschool; Creatinine; Glutamine; Hippurates; Humans; Lysine; Nitrogen; Orotic Acid; Phenylacetates; Urea | 1986 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Female; Humans; Lysine; Male; Ornithine; Orotic Acid; Syndrome | 1987 |
Carnitine deficiency in lysinuric protein intolerance: lysine-sparing effect of carnitine.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Humans; Lysine; Male | 1987 |
Pseudo-cystinuria-lysinuria in neonatal propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Cystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Lysine; Propionates | 1988 |
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biological Transport; Erythrocyte Membrane; Humans; Lysine; Mutation; Phenotype | 1988 |
[A case of combined lysinuric protein intolerance and hypoactivity of argininosuccinate synthetase (citrullinemia)].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ammonium Chloride; Citrulline; Female; Humans; Lysine; Renal Tubular Transport, Inborn Errors | 1988 |
[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Diamino; Ammonia; Biological Transport; Cell Membrane; Citrulline; Consanguinity; Dietary Proteins; Humans; Lysine; Male; Orotic Acid; Osteoporosis | 1988 |
[Inborn disorders in amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Glutathione; Humans; Lysine; Methylenetetrahydrofolate Dehydrogenase (NADP); Pyridoxine | 1988 |
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Bone Development; Child, Preschool; Citrulline; Female; Humans; Lysine; Osteogenesis; Osteoporosis | 1985 |
[Lysinuria and changes in the crystalline lens].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Humans; Lens Subluxation; Lysine; Male | 1985 |
Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Glutathione; Heptanoates; Heptanoic Acids; Humans; Hydrogen-Ion Concentration; Hydrolases; Lysine; Porphobilinogen Synthase; Spectrophotometry, Ultraviolet; Tyrosine | 1985 |
Cultured human fibroblasts and plasma membrane vesicles to investigate transport function and the effects of genetic mutation.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cell Membrane; Cells, Cultured; Diffusion; Electrochemistry; Fibroblasts; Folic Acid; Humans; Lysine; Membrane Potentials; Metabolism, Inborn Errors; Mutation; Potassium; Tetrahydrofolates | 1985 |
Familial hyperlysinemias--multiple enzyme deficiencies associated with the bifunctional aminoadipic semialdehyde synthase.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Evolution; Cells, Cultured; Fibroblasts; Humans; Lysine; Multienzyme Complexes; Oxidoreductases Acting on CH-NH Group Donors; Saccharopine Dehydrogenases; Skin | 1986 |
Letter: Lysine metabolism in Reye's syndrome.
Topics: Adipates; Amino Acid Metabolism, Inborn Errors; Amino Acids, Dicarboxylic; Brain Diseases; Child; Fatty Liver; Humans; Lysine; Reye Syndrome | 1974 |
Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Antipsychotic Agents; Arginine; Chlorpromazine; Cystinuria; Female; Fluphenazine; Humans; Intellectual Disability; Intestinal Absorption; Kidney Tubules; Lysine; Movement Disorders; Ornithine; Pedigree; Renal Aminoacidurias; Thioridazine; Trihexyphenidyl | 1973 |
Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Child, Preschool; Cystinuria; Female; Humans; Infant; Intestines; Lysine; Male; Renal Aminoacidurias; Urine | 1965 |
Argininosuccinic aciduria in hereditary hair diseases.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glutamates; Glutamine; Glycine; Hair; Histidine; Humans; Infant; Lysine; Male; Middle Aged; Serine; Skin Diseases; Threonine; Tyrosine; Valine | 1968 |
Lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Female; Humans; Infant, Newborn; Lysine; Male | 1974 |
[Cystinuria and lysinuria in Down's syndrome].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Cystinuria; Down Syndrome; Humans; Karyotyping; Lysine; Male; Pedigree | 1970 |
L-Lysine dehydrogenase deficiency in a patient with congenital lysine intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Cysteine; Humans; In Vitro Techniques; Liver; Lysine; NAD | 1966 |
Enzyme defect in saccharopinuria.
Topics: Adipates; Amines; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Female; Fibroblasts; Glutarates; Humans; Intellectual Disability; Lysine; Muscles; NADH, NADPH Oxidoreductases; Oxidoreductases; Paralysis | 1973 |
Letter: On a late developing urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Ligases; Lysine; Ornithine Carbamoyltransferase; Succinates; Urea | 1974 |
Letter: The high levels of lysine, homocitrulline, and homoarginine found in argininosuccinate synthetase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Ligases; Lysine; Succinates | 1974 |
Letter: The presence of the homoanalogues of substrates of the urea cycle in the presence of argininosuccinate synthetase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Diet; Humans; Ligases; Lysine; Ornithine Carbamoyltransferase; Succinates | 1974 |
Thin-layer chromatographic screening of amino acids in plasma and urine of newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Blood Proteins; Chromatography, Thin Layer; Female; Glycine; Homocysteine; Humans; Indicators and Reagents; Infant, Newborn; Infant, Premature; Lysine; Methionine; Phenylalanine; Pregnancy; Proteinuria; Tyrosine; Ultrafiltration | 1974 |
Alpha-aminoadipic aciduria, a non-deleterious inborn metabolic defect.
Topics: Adipates; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Dicarboxylic; Child; Female; Foot Deformities, Congenital; Humans; Intellectual Disability; Lysine; Male; Pedigree; Phenotype; Tuberous Sclerosis | 1974 |
Letter: hyperlysinaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Electroencephalography; Female; Growth; Humans; Intellectual Disability; Lysine; Male | 1974 |
Reducible crosslinks in hydroxylysine-deficient collagens of a heritable disorder of connective tissue.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bone and Bones; Borohydrides; Cartilage; Collagen; Collagen Diseases; Humans; Hydrolysis; Hydroxylysine; Lysine; Oxidation-Reduction; Skin; Tritium | 1972 |
Leukocyte and liver glutaminase in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Glutaminase; Humans; Infant; Leukocyte Count; Leukocytes; Liver; Lysine | 1972 |
[Methionine toxicity. 5. Amino acid content of blood serum and urine after high doses of methionine and gaseous elimination of 35S from 35S methionine].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Glutathione; Glycine; Histidine; Lysine; Methionine; Phenylalanine; Rats; Sulfur Isotopes; Taurine; Threonine; Time Factors; Tyrosine | 1972 |
Lysine biosynthesis in mammals.
Topics: Adipates; Amino Acid Metabolism, Inborn Errors; Animals; Cattle; Dipeptides; Humans; Liver; Lysine; Oxidoreductases | 1972 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine | 1973 |
[The inborn errors of metabolism of amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine | 1973 |
Familial pancreatitis associated with hyperglycinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amylases; Child; Female; Glycine; Humans; Lysine; Male; Middle Aged; Pancreatitis | 1973 |
[Saccharopinuria].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Intellectual Disability; Lysine | 1973 |
Citrullinemia and an alternative urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant; Lysine; Urea | 1973 |
Excretion of hypusine by children and by patients with familial hyperlysinemia.
Topics: Adolescent; Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Amino Alcohols; Child; Child, Preschool; Chromatography, Paper; Female; Humans; Infant; Lysine; Male; Putrescine | 1973 |
Hyperlysinaemia. Harmless inborn error of metabolism?
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Body Height; Carbon Isotopes; Child; Citrulline; Cystine; Fibroblasts; Humans; Ketone Oxidoreductases; Lysine; Male; Ornithine | 1973 |
Ion-exchange thin-layer chromatographic screening test for phenylketonuria and other aminoacidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatography, Thin Layer; Histidine; Humans; Infant; Lysine; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
Enzyme studies in a patient with saccharopinuria: a defect of lysine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cells, Cultured; Chromatography, Paper; Citrulline; Electrophoresis; Enzyme Induction; Fibroblasts; Glutarates; Humans; In Vitro Techniques; Ketoglutaric Acids; Lysine; Mitochondria; Oxidoreductases; Skin | 1974 |
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Dietary Proteins; Female; Humans; Intellectual Disability; Lysine; Mitochondria; Ornithine; Ornithine Carbamoyltransferase; Proline; Transaminases | 1974 |
Effect of low protein diet and hyperammonemia on liver glutaminase activity in the rat.
Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Body Weight; Dietary Proteins; Disease Models, Animal; Glutaminase; Liver; Lysine; Quaternary Ammonium Compounds; Time Factors | 1974 |
Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Cystine; Cystinuria; Fasting; Female; Humans; Infant; Infusions, Parenteral; Kidney Diseases; Liver Diseases; Lysine; Male; Metabolic Clearance Rate; Ornithine; Proteinuria; Renal Tubular Transport, Inborn Errors; Urea | 1974 |
[Combined cystinuria-lysinuria in 2 brothers with mental retardation and morphologic and neurologic anomalies].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Cystinuria; Female; Humans; Infant; Intellectual Disability; Lysine; Male; Middle Aged; Ornithine | 1968 |
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bone and Bones; Cartilage; Child; Collagen; Collagen Diseases; Fascia; Female; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Lysine; Microscopy, Electron; Pedigree; Scoliosis; Skin; Skin Diseases; Solubility; X-Ray Diffraction | 1972 |
A subtle disease and a dilemma: can cells secrete collagen that does not contain a sugar-tag?
Topics: Amino Acid Metabolism, Inborn Errors; Collagen; Collagen Diseases; Disaccharides; Galactose; Glucose; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Lysine; Skin; Skin Diseases | 1972 |
The effect of a single oral dose of lysine or arginine on the excretion of free amino acids by the starved laying hen.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Chickens; Female; Glycine; Histidine; Isoleucine; Lysine; Ornithine; Serine; Starvation; Time Factors; Tyrosine | 1972 |
Saccharopinuria.
Topics: Adipates; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography, Paper; Citrulline; Dipeptides; Female; Humans; Lysine; Muscle Spasticity | 1972 |
Amino acid excretion in infancy and early childhood. A survey of 200,000 infants.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Cystathionine; Cystinuria; Glycine; Histidine; Humans; Infant; Lysine; Mass Screening; Phenylketonurias; Proline | 1972 |
Hyperlysinuria with hyperammonemia. A new metabolic disorder.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Diet Therapy; Growth Disorders; Humans; Intellectual Disability; Intestinal Absorption; Kidney Concentrating Ability; Lysine; Male; Protein Biosynthesis; Syndrome; Urea | 1972 |
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Height; Consanguinity; Female; Finland; Genes, Recessive; Growth Disorders; Hepatomegaly; Heterozygote; Humans; Intellectual Disability; Lysine; Male; Pedigree; Proteins; Sex Factors; Urea | 1971 |
[Endogenous pellagra without hyperaminoaciduria].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Paper; Diagnosis, Differential; Electroencephalography; Glutamates; Glutamine; Hartnup Disease; Histidine; Humans; Lysine; Male; Pellagra; Serine; Skin Manifestations; Threonine | 1969 |
Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy; Child; Chromatography, Paper; Chromosomes; Diet Therapy; Electromyography; Eye Diseases; Female; Genes, Recessive; Glycine; Histidine; Humans; Kidney Function Tests; Lysine; Male; Microscopy, Electron; Middle Aged; Muscles; Muscular Diseases; Pedigree; Pelvis | 1969 |
Paper chromatographic survey of urinary amino-acids in muscular dystrophy.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Chromatography, Paper; Female; Histidine; Humans; Lysine; Male; Middle Aged; Muscular Dystrophies; Threonine | 1970 |
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Child; Chromatography, Thin Layer; Consanguinity; Cystine; Cystinuria; Diarrhea; Female; Growth; Humans; Intellectual Disability; Lysine; Malabsorption Syndromes; Ornithine; Renal Aminoacidurias; Vomiting | 1970 |
Putreanine excretion in human urine.
Topics: Adolescent; Adult; Aging; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child; Child, Preschool; Chromatography, Paper; Electrophoresis; Female; Humans; Lysine; Male; Middle Aged; Sex Factors | 1970 |
Incorporation of 14C-leucine into brain protein in rats with hyperaminoacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Autoanalysis; Brain; Carbon Isotopes; Female; Glycine; Histidine; Injections, Intraperitoneal; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Protein Biosynthesis; Rats; Valine | 1970 |
Amino acid excretion patterns in the offspring of a 'doubly-heterozygous' cystine stone former.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cysteine; Cystinosis; Cystinuria; Female; Ferrocyanides; Heterozygote; Homocysteine; Humans; Lysine; Molecular Biology; Ornithine | 1970 |
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias | 1970 |
Familial protein intolerance. Possible nature of enzyme defect.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Transport; Blood Cell Count; Blood Glucose; Blood Urea Nitrogen; Bone Diseases; Brain Diseases; Dietary Proteins; Female; Glutaminase; Glutamine; Hemoglobins; Humans; Intellectual Disability; Kidney; Kidney Function Tests; Lysine; Metabolism, Inborn Errors; Nitrogen; Proteins; Specific Gravity; Urea; Urine | 1971 |
[Citrullinemia].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Autopsy; Chromatography; Citrulline; Humans; Infant; Lysine; Male; Urea | 1971 |
Accumulation of lysine dipeptides in the brain in hyperpipecolatemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Autopsy; Brain; Brain Chemistry; Cell Fractionation; Central Nervous System Diseases; Chromatography, Ion Exchange; Chromatography, Paper; Dipeptides; Humans; Liver; Lysine; Pipecolic Acids; Rats; Tissue Extracts | 1971 |
[Isolated cystinuria (without lysin-, ornithinand argininuria) in a family with hypocalcemic tetany].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Chromatography; Cystinuria; Female; Humans; Hypocalcemia; Hypoparathyroidism; Lysine; Male; Ornithine; Parathyroid Glands; Parathyroid Hormone; Pedigree; Phosphates; Tetany; Tissue Extracts; Vitamin D | 1967 |
[Hyperaminoaciduria in children suffering from progressive muscular dystrophy].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Child; Child, Preschool; Creatine; Creatinine; Female; Glutamates; Histidine; Humans; Leucine; Lysine; Male; Methionine; Muscular Dystrophies; Nitrogen; Phenylalanine; Serine; Threonine; Tryptophan; Tyrosine; Valine | 1967 |
Intestinal absorption of L-arginine and L-lysine in familial protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biopsy; Child; Child, Preschool; Female; Humans; In Vitro Techniques; Intestinal Absorption; Jejunum; Lysine; Male; Proteins | 1968 |
Saccharopinuria: a new inborn error of lysine metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Ion Exchange; Chromatography, Paper; Citrulline; Female; Histidine; Humans; Lysine | 1968 |
[Cerebral findings in aminoaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Stem; Cataract; Cerebellum; Cystinuria; Dwarfism; Humans; Infant; Infant, Newborn; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Rickets | 1968 |
Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Cell Membrane Permeability; Child, Preschool; Cystine; Female; Genes, Dominant; Heterozygote; Humans; Intestinal Absorption; Kidney Function Tests; Lysine; Male; Ornithine | 1968 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ataxia; Child, Preschool; Citrulline; Diet Therapy; Humans; Intellectual Disability; Lysine; Male; Myoclonus; Ornithine; Ornithine Carbamoyltransferase; Seizures | 1969 |
Urinary amino acid and peptide excretion patterns in patients with muscular dystrophy (Duchenne). A preliminary study with the autoanalyzer.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Autoanalysis; Child; Child, Preschool; Glutamates; Glycine; Histidine; Humans; Isoleucine; Leucine; Lysine; Male; Muscular Dystrophies; Peptides; Phenylalanine; Serine; Threonine; Tyrosine; Valine | 1969 |
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopsy; Carbon Isotopes; Chromatography, Gas; Culture Techniques; Electrophoresis; Fibroblasts; Humans; Lysine | 1969 |
Renal excretion of cystathionine in dogs.
Topics: Absorption; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Chromatography, Ion Exchange; Dogs; Glomerular Filtration Rate; Glucose; Humans; Kidney; Kidney Tubules; Liver; Lysine; Muscles; Ornithine; Renal Artery; Tritium | 1969 |
Hyperlysinemia associated with retardation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Blood; Cerebrospinal Fluid; Child, Preschool; Humans; Intellectual Disability; Lysine; Urine | 1965 |
[Cystinuria in children in the light of our observations].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Cystinuria; Female; Humans; Lysine; Male; Ornithine | 1966 |