arginine has been researched along with Amino Acid Metabolism Disorders, Inborn in 336 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 239 (71.13) | 18.7374 |
| 1990's | 52 (15.48) | 18.2507 |
| 2000's | 28 (8.33) | 29.6817 |
| 2010's | 12 (3.57) | 24.3611 |
| 2020's | 5 (1.49) | 2.80 |
| Authors | Studies |
|---|---|
| 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 |
| Arunachalam, P; Choe, CU; Gelderblom, M; Gerloff, C; Jensen, M; Magnus, T; Müller, C; Schwedhelm, E; Zeller, T | 1 |
| Bouchereau, J; Schiff, M | 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 |
| Agrawal, PB; Dudenhausen, EE; El Achkar, CM; Genetti, CA; Kilberg, MS; Lomelino, CL; McKenna, R; Olson, HE; Rodan, L; Sacharow, SJ | 1 |
| Burgard, P; Chapman, KA; Gleich, F; Kölker, S; Lund, AM; Molema, F; Rizopoulos, D; Summar, ML; van der Ploeg, AT; Williams, M | 1 |
| Barilli, A; Bianchi, MG; Dall'Asta, V; Dionisi-Vici, C; Ferrari, F; Ingoglia, F; Martinelli, D; Rotoli, BM; Visigalli, R | 1 |
| Atzler, D; Chobanyan-Jürgens, K; Choe, CU; Frölich, JC; Huneau, JF; Kayacelebi, AA; Langen, J; Lücke, T; Mariotti, F; Rothmann, S; Schneider, JY; Schwedhelm, E; Tsikas, D; Weigt-Usinger, K | 1 |
| Aldámiz-Echevarria, L; Andrade, F; Couce, ML; de Las Heras, J; Llarena, M | 1 |
| Boneh, A; Coman, D; Yaplito-Lee, J | 1 |
| Gordon, N | 1 |
| Hoffmann, GF; Koeller, DM; Kölker, S; Okun, JG; Opp, S; Sauer, SW | 1 |
| de Theije, C; Harding, HP; Köhler, SE; Lamers, MC; Lamers, WH; Lindsey, P; Marion, V; Ron, D; Sankaranarayanan, S; van Dijk, P | 1 |
| Baumgartner, MR; Bevivino, E; Boenzi, S; Brancati, F; Carrozzo, R; Colafati, GS; Dionisi-Vici, C; Giunta, C; Goffredo, BM; Gougeard, N; Häberle, J; Hausser, I; Marco-Marín, C; Martinelli, D; Meschini, MC; Rubio, V | 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 |
| 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 |
| Craigen, WJ; Davis, EC; Pan, Y; Reid Sutton, V | 1 |
| Andresen, BS; Campistol, J; Curcoy, A; Gregersen, N; Olsen, RK; Osorio, JH; Ribes, A; Trenchs, V; Vilaseca, MA | 1 |
| Aalto, M; Lukkarinen, M; Näntö-Salonen, K; Pulkki, K; Simell, O | 1 |
| CAVALLINI, D; TENTORI, L | 1 |
| BEER, S; FISCHL, J; WALLIS, K | 1 |
| ARMSTRONG, MD; STEMMERMANN, MG; YATES, KN | 1 |
| Mann, GV; Perry, N | 1 |
| COFFEY, VP | 1 |
| HAMBRAEUS, L | 1 |
| LEDERER, J | 1 |
| DEHEVESY, G; HAMBRAEUS, L | 1 |
| TOMLINSON, S; WESTALL, RG | 1 |
| GROSFELD, JC; MIGHORST, JA; MOOLHUYSEN, TM | 2 |
| BORLAND, JL; LYNCH, HJ; MCCARTHY, CF; OWEN, EE; TYOR, MP | 1 |
| WOODY, NC | 2 |
| PERALTASERRANO, A | 1 |
| Bachmann, C | 2 |
| Chiang, SC; Chien, YH; Chou, SP; Huang, A; Huang, YT; Hwu, WL; Tseng, SS | 1 |
| Baumgartner, MR; Dufier, JL; Kamoun, P; Nassogne, MC; Padovani, JP; Rabier, D; Saudubray, JM; Valle, D | 1 |
| Andria, G; Maiuri, L; Maroupulos, GD; Paladino, S; Sebastio, G; Sperandeo, MP; Taglialatela, M; Zurzolo, C | 1 |
| Berger, R; Besley, GT; Cleary, MA; de Koning, TJ; Dorland, L; Duran, M; Mandell, R; Olpin, SE; Poll-The, BT; Shih, VE | 1 |
| Osada, H; Seki, K | 1 |
| Hara, T; Kanazawa, N; Kira, R; Sakai, Y; Sanefuji, M; Takemoto, M; Torisu, H; Tsujino, S | 1 |
| Jakobs, C; Reijngoud, DJ; Sijens, PE; Soorani-Lunsing, RJ; van Spronsen, FJ; Verhoeven, NM | 1 |
| Fiona, WJ; Santos, L; Walter, JH | 1 |
| Barbier, R; Caron, O; Dollfus, H; Fleury, M; Mohr, M; Tranchant, C; Warter, JM; Ziegler, F | 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 |
| Rabier, D; Saudubray, JM | 1 |
| Allen, K; Angus, P; Boneh, A; Hamilton, C; Hardikar, W; Jones, R; Newnham, T; Wellard, RM | 1 |
| Deputy, S; Gereighty, H; Keats, B; Mannick, E; Marble, M; McGoey, RR; Ng, SS; Schmidt-Sommerfeld, E | 1 |
| Westall, RG | 1 |
| Levin, B | 2 |
| Brown, H; Diamond, R; Efron, ML; Moser, HW; Neumann, CG | 1 |
| Armstrong, MD; Robinow, M | 1 |
| Barness, LA; Efron, ML; Morrow, G | 1 |
| Wu, WK | 1 |
| Kekomäki, M; Perheentupa, J; Saxén, L; Visakorpi, JK | 1 |
| Kekomäki, M; Perheentupa, J; Räihä, NC | 1 |
| Arshinoff, SA; Bell, L; Marliss, EB; McCulloch, JC; McInnes, RR | 1 |
| Moeller, H; Nolte, R | 1 |
| Fensom, AH; Garrod, P; Heaton, D; Penketh, RJ; Vimal, CM; Ward, RH | 1 |
| Visek, WJ | 1 |
| Perheentupa, J; Rajantie, J; Simell, O | 2 |
| Colombo, JP; Konarska, L; von Fellenberg, R; Wiesmann, U | 1 |
| Kang, SS; Melyn, MA; Wong, PW | 1 |
| Cederbaum, SD; Rice, SC; Spector, EB | 1 |
| Behbehani, AW; Gahr, M; Schröter, W | 1 |
| Larochelle, J; Lemieux, B; Letarte, J; Ouellet, R; Qureshi, IA | 1 |
| Ban, M; Kato, T; Mizutani, N | 1 |
| Batshaw, M; Brusilow, SW; Burton, B; Danney, M; Levitsky, L; McKeethren, C; Roth, K; Waber, LJ; Ward, J | 1 |
| Goto, I; Kuroiwa, Y; Yoshimura, T | 1 |
| Endres, W; Schaller, R; Shin, YS | 1 |
| Davidson, JS; Harley, EH | 1 |
| Adriaenssens, K; Karcher, D; Lowenthal, A; Marescau, B; Terheggen, HC; Van Broeckhoven, C | 1 |
| Batshaw, ML | 2 |
| Brusilow, SW | 1 |
| Berghuis, M; Cats, BP; de Klerk, JB; Duran, M | 1 |
| Hayakawa, C; Kato, T; Maehara, M; Mizutani, N; Suzuki, S; Watanabe, K | 1 |
| Batshaw, ML; Brusilow, S; Letarte, J; Ouellet, R; Qureshi, IA | 1 |
| Ban, M; Kato, T; Maehara, M; Mizutani, N; Watanabe, K | 1 |
| Kitagawa, T; Kodama, S; Kondo, W; Nakabayashi, H; Sakiyama, T; Shimizu, H | 1 |
| Ameen, M; Palmer, T | 1 |
| Perheentupa, J; Rajantie, J; Rapola, J; Simell, O | 1 |
| Beemer, FA; de Groot, WP; Schutgens, RB; Tegelaers, WH | 1 |
| Cathelineau, L; Charpentier, C; Coude, FX; Frezal, J; Grimber, G; Ogier, H; Parvy, P; Saudubray, JM | 1 |
| Carter, M; Cederbaum, SD; Moedjono, SJ; Naylor, E; Shaw, KN; Walzer, M | 1 |
| Applegarth, DA; Crichton, JU; Davidson, AG; Margalith, D; Toone, JR; Wong, L | 1 |
| Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L | 1 |
| Acosta, PB; Bell, L; Chan, L | 1 |
| Berger, R; Blom, W; Brubakk, AM; Teijema, LL | 1 |
| Guthrie, R; Naylor, EW; Sumlin, AB; Talbot, HW | 1 |
| Puukka, M; Ruokonen, A; Similä, S; von Wendt, L | 1 |
| Colombo, JP; Lowenthal, A; Terheggen, HG | 1 |
| Briand, P; Cathelineau, L; Kamoun, P; Pham Dinh, D | 2 |
| Kubota, K; Murakami, T; Yamashita, F; Yoshida, I; Yoshino, M | 1 |
| Canosa, C; Grisolia, S; Gutierez, F; Jordá, A; Nyhan, WL; Rubio, V | 1 |
| Alderweireldt, F; Esmans, E; Lowenthal, A; Marescau, B; Terheggen, HG | 1 |
| Böhles, H; Cohen, BD; Michalk, D | 1 |
| Grisar, T | 1 |
| Kitagawa, T; Owada, M; Sakiyama, T; Suzuki, T | 1 |
| Olmos-García de Alba, G; Rodríguez-García, A; Valarezo-Crespo, F | 1 |
| Barrie, H; Cream, JJ; Phillips, ME | 1 |
| Alderweireldt, F; Dommisse, R; Esmans, E; Lemière, G; Lowenthal, A; Luyten, Y; Marescau, B; Pintens, J; Terheggen, HG | 1 |
| Cederbaum, SD; Hendrickson, R; Spector, EB; Terasaki, K | 1 |
| Laberge, C; Lelièvre, M; Letarte, J; Ouellet, R; Qureshi, IA | 1 |
| Colombo, JP; Konarska, L; Wiesmann, U | 1 |
| Devarajan, LV; Jadhav, M; Kuttan, R; Radhakrishnan, AN | 1 |
| Dodinval-Versie, J; Grisar, T; Husquinet, H; Parent, MT; Schoos-Barbette, S | 1 |
| Collins, FS; Parke, JC; Schwartz, RP; Summer, GK | 1 |
| Bachmann, C; Colombo, JP | 1 |
| Batshaw, ML; Brusilow, SW | 2 |
| Lawler, AM; Milam, AH; Sipila, I; Steel, G; Valle, D; Wang, T | 1 |
| Böhles, HJ; Demirkol, M; Herwig, J; Sewell, AC | 1 |
| Faggioli, R; Scarpa, P | 1 |
| Jakobs, C; Lambert, M; Matsuda, I; Qureshi, IA; Sansaricq, C; Shapira, SK; Smit, LM; Snyderman, SE; Uchino, T | 1 |
| Bébin, B; Candito, M; Chambon, P; Chazalette, JP; Ferraci, JP; Mathieu, M; Sebag, F; Vianey-Saban, C | 1 |
| Leonard, JV; Patel, JS; van't Hoff, WV | 1 |
| Cederbaum, SD; Goodman, BK; Grody, WW; Kang, DS; Kern, RM; Tabor, DE; Vockley, JG; Wissmann, PB | 1 |
| Endo, F; Hoshide, R; Ishikawa, K; Kato, I; Kiwaki, K; Koike, E; Komaki, S; Matsuura, T; Oyanagi, K; Suzuki, Y | 1 |
| Caruso, U; Cerone, R; Ciccone, O; Gatti, R; Schiaffino, MC | 1 |
| Bebin, B; Bekri, S; Candito, M; Chambon, P; Kamoun, P; Rabier, D; Sebag, F; Vianey-Saban, C | 1 |
| Mäki, J; Parto, K; Pelliniemi, LJ; Simell, O | 1 |
| Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW | 1 |
| Henry, BW; Lange, C; Matalon, R; Melnyk, AR; Zeller, WP | 1 |
| Marttinen, M; Parto, K; Simell, O; Svedström, E; Virtama, P | 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 |
| Ahrens, MJ; Berry, SA; Markowitz, DJ; Plante, RJ; Tuchman, M; Whitley, CB | 1 |
| Braga, AC; Ferreira, E; Rocha, H; Vilarinho, L | 1 |
| Aula, P; Lauteala, T; Lukkarinen, M; Mykkänen, J; Savontaus, ML; Simell, J; Simell, O; Sistonen, P | 1 |
| Braga, MJ; Chaves, CR; Correia, PS; de Menezes, CR; de Oliveira, CP; de Oliveira, ML; Horovitz, DG; Llerena Júnior, JC; Rosa, AA; Simoni, RE | 1 |
| Akatsu, T; Kawamoto, S; Kerlin, P; Kobayashi, K; Lynch, SV; Matsunami, H; Nakagawa, S; Saheki, T; Steadman, C; Strong, RW | 1 |
| Ampola, MG; Breen, JC; Prasad, AN; Rosman, NP | 1 |
| Asai, K; Furusho, K; Ishii, S; Ohta, S | 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 |
| Matsuda, I; Uchino, T | 1 |
| Boneh, A; Drugan, A; Kure, S; Mandel, H; Matsubara, Y; Narisawa, K; Rolland, MO; Sakata, Y; Shinka, T; Tada, K | 1 |
| Cederbaum, S; Grody, WW; Iyer, R; Jenkinson, CP; Kern, RM; Vockley, JG | 1 |
| Feillet, F; Leonard, JV | 1 |
| Beaudet, AL; Dennis, JA; Frazer, M; Healy, PJ; Lee, B; Mull, B; O'Brien, WE; Patejunas, G; Reeds, PJ; Warman, AW; Yu, H | 1 |
| Busuttil, AA; Busuttil, RW; Dulkanchainun, TS; Goss, JA; McDiarmid, SV; Seu, P; Yanni, GS | 1 |
| Gibson, KM; Medina-Kauwe, LK; Nyhan, WL; Tobin, AJ | 1 |
| Ash, DE; Cederbaum, SD; Christianson, DW; Kanyo, ZF; Scolnick, LR; Vockley, JG | 1 |
| Bowling, FG; Cowley, DM; McGill, JJ; Morris, D; van Dongen, J | 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 |
| Inoue, S; Kawata, S; Kayanoki, Y; Kiso, S; Matsuzawa, Y; Tamura, S; Taniguchi, N; Yamasaki, E | 1 |
| Cardoso, ML; Martins, E; Rocha, J; Vasconcelos, R; Vilarinho, L | 1 |
| Fukushige, T; Kobayashi, K; Li, MX; Nakajima, T; Saheki, T; Seiler, N | 1 |
| Harms, E; Homberger, A; Koch, HG; Linnebank, M; Marquardt, T; Rapp, B; Winter, C | 1 |
| Matsumura, R | 1 |
| Almashanu, S; Aral, B; Baumgartner, MR; Hu, CA; Kamoun, P; Obie, C; Rabier, D; Saudubray, JM; Steel, G; Valle, D | 1 |
| Summar, M | 1 |
| Batshaw, ML; MacArthur, RB; Tuchman, M | 1 |
| Berry, GT; Steiner, RD | 1 |
| Loscalzo, J | 1 |
| Hiraoka, H; Inui, Y; Ito, N; Kamada, Y; Kawata, S; Kayanoki, Y; Kiso, S; Maruyama, T; Matsuzawa, Y; Nagaretani, H; Ohama, T; Tamura, S; Yamada, A; Yamashita, S | 1 |
| Ebinger, F; Mayatepek, E; Rating, D; Schulze, A | 1 |
| Batshaw, ML; Braine, H; Brusilow, SW; Moser, HW; Murray, C | 1 |
| Colombo, JP; Lavinha, F; Lowenthal, A; Rogers, S; Terheggen, HG | 1 |
| Glick, NR; Schafer, IA; Snodgrass, PJ | 1 |
| Rogers, S | 1 |
| Klebe, RJ; Naylor, SL; Shows, TB | 1 |
| Adriaenssens, K; Lowenthal, A; Marescau, B; Pintens, J; Terheggen, HG | 1 |
| Desnick, RJ; Fleisher, LD; Gaull, GE; Muir, A; Rassin, DK | 1 |
| Goldstein, F; Norton, PM; Sansaricq, C; Snyderman, SE | 1 |
| Cederbaum, SD; Shaw, KN; Snodgrass, PJ; Spector, EB; Sugarman, GI; Verity, MA | 1 |
| Bean, M; Desnick, RJ; Fleisher, LD; Gaull, GE; Rassin, DK; Rogers, P; Salwen, HR | 1 |
| Lowenthal, A; Marescau, B; Pintens, J; Terheggen, HG | 1 |
| Berio, A | 1 |
| Böhles, H; Fekl, W; Harms, D; Heid, H; Sitzmann, FC | 1 |
| Beaudet, AL; Michels, VV | 1 |
| Böhles, H; Fekl, W; Harms, D; Heid, H; Schmid, D | 2 |
| Bakker, HD; Brink, M; de Bree, PK; Desplanque, J; van der Heiden, C; Wadman, SK | 1 |
| Iakovenko, LP; Krasnopol'skaia, KD; Lebedev, BV; Mazaeva, IV | 1 |
| Ellory, JC; Tucker, EM; Young, JD | 1 |
| Tada, K | 1 |
| Kawamura, M | 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 |
| Chen, WJ; Norton, PM; Phansalkar, SV; Sansaricq, C; Snyderman, SE | 1 |
| Cederbaum, SD; Shaw, KN; Valente, M | 1 |
| Carson, NA; Redmond, OA | 1 |
| Billmeier, GJ; Cavallo, K; Chan, H; Molinary, SV; Schaffer, A; Shin, BC; Tucker, HN | 1 |
| Leroy, JG; Van Elsen, AF | 1 |
| Batshaw, M; Brusilow, S; Robinson, B; Sherwood, G; Walser, M | 1 |
| Nakao, T; Oyanagi, K; Sogawa, H | 1 |
| Jarosch, E; Plöchl, E | 1 |
| Ellingsen, E; Hambraeus, L; Hardell, LI | 1 |
| Hansen, S; MacLean, J; Perry, TL | 1 |
| Nakao, T; Orii, T; Oyanagi, K; Sato, S; Sogawa, H | 1 |
| Horisawa, S; Kato, T; Tanaka, E | 1 |
| Farriaux, JP; Fontaine, G; Pieraert, C | 1 |
| Simell, O | 1 |
| Eskelin, LE; Perheentupa, J; Rapola, J; Simell, O; Visakorpi, JK | 1 |
| Cartigny, B; Dhondt, JL; Farriaux, JP | 1 |
| Bloom, AD; Lockridge, O; Spector, EB | 1 |
| Awrich, AE; Cantrell, JE; Patterson, JH; Rudman, D; Stackhouse, WJ | 1 |
| Marliss, EB; McCulloch, C | 1 |
| Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG | 1 |
| Shimizu, H | 1 |
| Kameyama, M; Sawada, H; Seriu, N; Sugiyama, H; Udaka, F | 1 |
| Antonozzi, I; Bachmann, C; Cederbaum, SD; Cerone, R; Chamoles, N; Colombo, JP; De Deyn, PP; Lowenthal, A; Marescau, B; Qureshi, IA | 1 |
| Aono, S; Hayakawa, C; Ikemoto, M; Kashiwamata, S; Keino, H; Mizutani, N; Murachi, T; Totani, M; Watanabe, K | 1 |
| Dallaire, L; De Deyn, PP; Desjardins, M; Dhondt, JL; Laberge, M; Lambert, MA; Marescau, B; Qureshi, IA | 1 |
| Baker, GL; Franklin, JD | 1 |
| Atanasova, E | 1 |
| Barbosa, C; Kamoun, P; Parvy, P; Rabier, D; Senra, V; Vilarinho, A; Vilarinho, L | 1 |
| Christmann, D; Collard, M; Colombo, JP; Hirsch, E; Marescaux, C; Mutschler, V | 1 |
| Brockstedt, M; de Grauw, AJ; Jakobs, C; Smit, LM; van der Klei-van Moorsel, JM | 1 |
| Gale, DS; Iafolla, AK; Roe, CR | 1 |
| Batshaw, ML; Coyle, JT; Hyman, SL; Jankel, W; Parke, JC; Porter, C; Thomas, GH | 1 |
| Hayakawa, C; Kato, T; Mizutani, N; Sano, M | 2 |
| Kato, T; Mizutani, N; Sano, M | 1 |
| Booth, FA; Dilling, LA; Hansen, S; Jones, K; Penn, AM; Perry, TL | 1 |
| Ambani, LM; Apte, BN; Balsekar, MV; Bhatia, RS; Shah, SB | 1 |
| Bhate, SM; Gambhir, PS; Joshi, AS; Khedkar, VA; Limaye, AS; Padalkar, JA; Phadke, MA | 1 |
| De Deyn, PP; Lowenthal, A; Marescau, B; Wiechert, P | 1 |
| Bachmann, C; Bremer, HJ; Wendel, U; Wieland, J | 1 |
| Lloyd, DJ; Rose, SJ; White, IH | 1 |
| Betremieux, P; David, V; Journel, H; Le Marec, B; Odent, S; Roussey, M | 1 |
| Ben-Yoseph, Y; Mitchell, DA | 1 |
| Haraguchi, Y; Matsuda, I; Mori, M; Ohtake, A; Takayanagi, M; Takiguchi, M | 1 |
| Haraguchi, Y; Mori, M | 1 |
| García-Piño, J; Jordá, A; Portolés, M; Rubio, V; Vilas, J | 1 |
| Johnson, BD; Morgan, HB; Swaiman, KF | 1 |
| Carter, RJ; Parsons, HG; Pinto, A; Scott, RB; Snyder, FF | 1 |
| Antonozzi, I; Leuzzi, V | 1 |
| Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G | 1 |
| Portolés Sanz, M | 1 |
| Chadefaux, B; Kamoun, P; Rabier, D | 1 |
| Kobayashi, K; Matuo, S; Saheki, T; Tatsuno, M | 1 |
| Barbero Aguirre, P; Briones Godino, P; Lizárraga Vidaurreta, I; Maya Victoria, A; Pascual Castroviejo, I; Rodes Monegal, M; Vilaseca Busca, MA | 1 |
| Akiyoshi, H; Ichihara, K; Inoue, I; Ishii, S; Mito, T; Nakajima, M; Saheki, T; Takakura, H; Takashima, S; Takeshita, K | 1 |
| Hagihara, S; Inoue, I; Kobayashi, K; Matuo, S; Noda, T; Saheki, T | 1 |
| Hagihara, S; Ichiki, H; Imamura, Y; Inoue, I; Kobayashi, K; Matuo, S; Noda, T; Saheki, T; Tatsuno, M | 1 |
| Hayakawa, C; Maehara, M; Mizutani, N; Watanabe, K | 1 |
| Capdevila, A; García-Piño, J; Jordá, A; Portolés, M; Rubio, V; Vilas, J | 1 |
| Konarska, L | 1 |
| Simell, O; Sipilä, I; Vannas-Sulonen, K | 1 |
| Bachmann, C; Baumgartner, R; Zimmermann, A | 1 |
| Itakura, Y; Kobayashi, K; Mino, M; Nakano, K; Okamoto, R; Oyanagi, K; Saheki, T; Sase, M | 1 |
| Anast, CS; Carpenter, TO; Holtrop, ME; Levy, HL; Shih, VE | 1 |
| Donn, SM; Thoene, JG | 1 |
| Brusilow, SW; Farmer, ER; Goldblum, OM; Maldonado, YA | 1 |
| De Deyn, P; Letarte, J; Lowenthal, A; Marescau, B; Qureshi, IA; Ryba, R | 1 |
| Colombo, JP; Konarska, L; Terheggen, HG; Tomaszewski, L | 1 |
| Hambraeus, L; Hardell, LI; Hjorth, G; Lorentsson, R; Westphal, O | 1 |
| Fluharty, AL; Kihara, H; Porter, MT; Valente, M | 1 |
| Perheentupa, J; Visakorpi, JK | 1 |
| Carton, D; Kint, J | 1 |
| Maagoe, H | 2 |
| Littlefield, JW; Shih, VE | 1 |
| Hill, A; Zaleski, WA | 1 |
| Guthrie, R; Murphey, WH; Patchen, L | 1 |
| Ratner, S | 1 |
| Burgess, EA; Oberholzer, VG; Palmer, T; Wagstaff, TI | 1 |
| Scott-Emuakpor, AB | 1 |
| Levin, B; Oberholzer, VG; Palmer, T | 3 |
| Cathelineau, L; Charpentier, C; Polonovski, C; Saudubray, JM | 1 |
| Century, B; Natelson, S; Vorkink, WP | 1 |
| Brenton, DP; Cusworth, DC; Hartley, S; Kuzemko, JA; Lumley, S | 1 |
| Baños, G; Daniel, PM; Moorhouse, SR; Pratt, OE | 1 |
| De Meyer, R; Dubois, R; Eeckels, R; Espen, J; Hooft, C; Lambrechts, A; Loeb, H; Moyson, FR | 1 |
| Levy, HL | 2 |
| Frimpter, GW | 1 |
| Jones, TC; Levy, HL; Madigan, PM; Shih, VE | 1 |
| Jagenburg, R; Meberg, A; Steen, G | 1 |
| Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG; Van Sande, M | 1 |
| Colombo, JP; Lowenthal, A; Rogers, S; Schwenk, A; Terheggen, HG; Van Sande, M | 1 |
| Carton, D; Hooft, C | 1 |
| Kroll, S; Toussaint, W; Zebisch, P | 2 |
| Cederbaum, SD; Cotton, ME; Shaw, KN; Valente, M | 1 |
| Burgess, EA; Levin, B; Oberholzer, VG; Palmer, T | 1 |
| Teijema, HL; van Gelderen, HH | 1 |
| Garrett, WJ; Goodman, SI; Mace, JW; Turner, B | 1 |
| Dogan, K; Dogan, S; Lipovac, K; Rudar, D; Schmutzer, L | 1 |
| Fell, V; Pollitt, RJ; Sampson, GA; Wright, T | 1 |
| Buist, NR; Hepburn, CA; Kennaway, NG; Ramberg, DA; Strandholm, JJ | 1 |
| Delattre, P; Farriaux, JP; Fontaine, G; Louis, J; Mesmacque-Caby, D | 1 |
| Perheentupa, J; Simell, O | 1 |
| Danks, DM; Tippett, P; Zentner, G | 1 |
| Crane, CW; Jenner, FA; Pollitt, RJ | 1 |
| Menne, F | 1 |
| Szliwowski, HB; Thiriar, MJ; Vis, HL | 1 |
| Bray, RC; Ratner, S | 1 |
| Lee, DJ | 1 |
| Jacoby, LB; Littlefield, JW; Milunsky, A; Shih, VE; Wilroy, RS | 1 |
| Adams, ED; Brown, JH; Fabre, LF; Farrell, GL | 1 |
| Lee, CR; Pollitt, RJ | 1 |
| Barkin, E; Levy, HL | 1 |
| Chapuis, JL; Gavanou, J; Lambert, D; Oudot, C; Turk, C | 2 |
| Crome, L; France, NE | 1 |
| Berry, HK | 1 |
| Barois, A; Caldera, R; Escourolle, R; Goulon, M; Grosbuis, S; Nouailhat, F | 1 |
| Liebler, G; Porath, U; Schreier, K | 1 |
| Humbel, R; Kutter, D | 1 |
| Lewis, PD; Miller, AL | 1 |
| Miura, R; Oyanagi, K; Yamanouchi, T | 1 |
| Colombo, JP; Lowenthal, A; Schwenk, A; Terheggen, HG; van Sande, M | 2 |
| Helger, R; Kraffczyk, F; Lang, H | 1 |
| Copeland, W; Kelly, S; Leikhim, E | 1 |
| Antener, I | 1 |
| Brodehl, J; Gellissen, K; Kowalewski, S | 1 |
| Gusev, EI | 1 |
| Coffey, VP; Martin, MC; Moore, PT; Stokes, BM | 1 |
| Kekomäki, M | 1 |
| Scriver, CR; Whelan, DT | 1 |
| Cohen, BD; Kornhauser, RS; Stein, IM | 1 |
| Carton, D; De Schrijver, F; Hooft, C | 1 |
| Dolan, TF; Nelligan, DJ; Shih, VE; Solitare, GB | 1 |
| Coryell, ME; Farrow, RT; Gatz, AJ; Hall, WK; Horton, BF; Looper, JW; Sisson, BD; Thevaos, TG; Welter, DA | 1 |
| Peralta Serrano, A | 1 |
| Bernasowska-Knapczykowa, K; Hanicka, M; Kos, S | 1 |
21 review(s) available for arginine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
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 |
New indications and controversies in arginine therapy.
Topics: Acidosis, Lactic; Amino Acid Metabolism, Inborn Errors; Arginine; Central Nervous System; Creatine; Dietary Supplements; Humans; MELAS Syndrome; Mitochondrial Myopathies; Nitric Oxide; Vascular Diseases | 2008 |
Guanidinoacetate methyltransferase deficiency (GAMT).
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Creatine; Diagnosis, Differential; Diet, Protein-Restricted; Dietary Supplements; Guanidinoacetate N-Methyltransferase; Humans; Learning Disabilities; Magnetic Resonance Imaging; Ornithine | 2010 |
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Biomarkers; Humans; Lysine; Ornithine | 2007 |
An update of concepts of essential amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Animals; Arginine; Atrophy; Child; Choroid; Dietary Proteins; Female; Glucose Tolerance Test; Growth; Histidine; Humans; Insulin; Kidney Failure, Chronic; Male; Middle Aged; Nitrogen; Nutritional Requirements; Orotic Acid; Pregnancy; Retinal Diseases; Reye Syndrome; Urea; Uveal Diseases; Wounds and Injuries | 1984 |
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginase; Arginine; Atrophy; Cerebellum; Cerebral Cortex; Cerebral Palsy; Child; Child, Preschool; Cognition Disorders; Dietary Proteins; Disease Progression; Fatal Outcome; Female; Follow-Up Studies; Humans; Hyperargininemia; Male; Microcephaly; Models, Neurological; Muscle Spasticity; Neurodegenerative Diseases; Seizures; Treatment Outcome; Vomiting | 1997 |
[Arginase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Diagnosis, Differential; Glycoside Hydrolases; Humans; Polysaccharide-Lyases; Prognosis | 1998 |
The human arginases and arginase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Arginase; Arginine; Cell Line; Humans; Hyperargininemia; Isoenzymes; Molecular Sequence Data | 1998 |
Alternative pathway therapy for urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Benzoates; Benzoic Acid; Child; Citrulline; Combined Modality Therapy; Female; Humans; Male; Nitrogen; Phenylacetates; Phenylbutyrates; Urea | 1998 |
The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Follow-Up Studies; Humans; Infant; Infant, Newborn; Liver Transplantation; Male; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies; Transplantation, Homologous; Urea | 1998 |
[Disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Humans; Nervous System Diseases; Ornithine Carbamoyltransferase Deficiency Disease; Prognosis; Urea | 2000 |
Alternative pathway therapy for urea cycle disorders: twenty years later.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Humans; Hyperammonemia; Phenylacetates; Phenylbutyrates; Sodium Benzoate; Urea | 2001 |
[Late diagnosis of congenital argininemia during administration of sodium valproate].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Epilepsy; Female; Humans; Psychomotor Disorders; Valproic Acid | 1990 |
Hyperargininemia, epilepsy and the metabolism of guanidino compounds.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Brain; Child; Epilepsy; Guanidines; Humans; Hyperargininemia | 1989 |
[Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Child, Preschool; Erythrocytes; Female; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Male | 1988 |
Enzymes of arginine and urea synthesis.
Topics: Aging; Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Binding Sites; Carbamates; Dietary Proteins; Humans; Kinetics; Liver; Lyases; Organ Specificity; Ornithine; Ornithine Carbamoyltransferase; Phosphotransferases; Species Specificity; Succinates; Urea | 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 |
Arginnosuccinic aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Blood Urea Nitrogen; Child, Preschool; Citrulline; Humans; Intellectual Disability; Lyases; Rats; Succinates | 1967 |
[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 |
Hereditary metabolic disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Aspartic Acid; Carbamates; Citrulline; Humans; Ligases; Liver; Lyases; Models, Chemical; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Urea | 1971 |
1 trial(s) available for arginine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans.
Topics: Adolescent; Adult; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Child; Coronary Artery Disease; Developmental Disabilities; Female; Guanidinoacetate N-Methyltransferase; Homoarginine; Humans; Intellectual Disability; Language Development Disorders; Male; Mice; Mice, Knockout; Middle Aged; Movement Disorders; Peripheral Arterial Disease; Speech Disorders | 2015 |
314 other study(ies) available for arginine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
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 |
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Developmental Disabilities; Gene Expression Regulation; Glycine; Homoarginine; Intellectual Disability; Mice; Mice, Inbred C57BL; Speech Disorders; Stroke | 2020 |
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 |
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Asparagine; Aspartate-Ammonia Ligase; Binding Sites; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Female; Fibroblasts; Glutamine; Homozygote; Humans; Intellectual Disability; Male; Models, Molecular; Mutation; Seizures; Siblings | 2018 |
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Arginine; Body Height; Child; Child, Preschool; Diet; Europe; Female; Growth Disorders; Humans; Longitudinal Studies; Male; Propionic Acidemia; Registries; Urea Cycle Disorders, Inborn | 2019 |
Analysis of LPI-causing mutations on y+LAT1 function and localization.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Animals; Arginine; Cells, Cultured; Child; Child, Preschool; CHO Cells; Cricetulus; Cytosol; Female; Fusion Regulatory Protein 1, Light Chains; Humans; Male; Monocytes; Mutation; Protein Transport | 2019 |
Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria.
Topics: Adult; Allografts; Amino Acid Metabolism, Inborn Errors; Arginine; Biomarkers; Cause of Death; Disease Progression; Fatal Outcome; Humans; Immunosuppressive Agents; Kidney Failure, Chronic; Kidney Transplantation; Living Donors; Male; Pancreatitis; Predictive Value of Tests; Risk Factors; Time Factors; Treatment Outcome | 2015 |
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 |
Arginine deficiency causes runting in the suckling period by selectively activating the stress kinase GCN2.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Suckling; Arginase; Arginine; B-Lymphocytes; Growth Hormone; Hair Diseases; Hypoglycemia; Insulin-Like Growth Factor I; Mechanistic Target of Rapamycin Complex 1; Mice; Mice, Knockout; Multiprotein Complexes; Muscular Diseases; Protein Serine-Threonine Kinases; Proteins; Signal Transduction; Syndrome; TOR Serine-Threonine Kinases | 2011 |
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Humans; Infant; Male; Models, Molecular; Molecular Sequence Data; Ornithine-Oxo-Acid Transaminase; Phenotype | 2012 |
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 |
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 |
A mouse model of argininosuccinic aciduria: biochemical characterization.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Cyclic GMP; Disease Models, Animal; Female; Genotype; Humans; Hyperammonemia; Male; Mice; Mice, Inbred Strains; Mice, Knockout; Nitric Oxide; Ornithine Carbamoyltransferase; Urea | 2003 |
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 |
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 |
[Arginine-induced aminoaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Antifibrinolytic Agents; Arginine; Body Fluids; Chromatography; Urine | 1954 |
A FAMILY AFFECTED BY ARGININO-SUCCINIC ACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Electrophoresis; Genetics, Medical; Kidney; Metabolic Diseases; Renal Aminoacidurias; Succinates; Urine | 1963 |
AN OCCURRENCE OF ARGININOSUCCINIC ACIDURIA.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Child; Humans; Infant; Infant, Newborn; Kidney; Renal Aminoacidurias; Succinates; Urine; Urologic Diseases | 1964 |
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 |
MENTAL RETARDATION AND THE INBORN ERRORS OF METABOLISM.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Fructose; Galactosemias; Histidine; Homocysteine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Vitamin B 6 Deficiency | 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 |
[DISEASES CAUSED BY METABOLIC DISORDER OF THE KREBS-HENSELEIT CYCLE].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Chemical Analysis; Child; Dietary Proteins; Humans; Infant; Kidney; Liver; Metabolic Diseases; Renal Aminoacidurias; Succinates | 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 |
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Blood Cells; Blood Chemical Analysis; Erythrocytes; Genetics, Medical; Humans; Leukocytes; Lyases; Renal Aminoacidurias | 1964 |
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Aciduria; Chromatography; Congenital Abnormalities; Genetics, Medical; Hair; Humans; Intellectual Disability; Monilethrix; Succinates; Urine | 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 |
[OLIGOPHRENIA, CONVULSIONS AND ARGININURIA].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Body Fluids; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Seizures; Urine | 1964 |
[MONILETHRIX AND TRICHORRHEXIS NODOSA].
Topics: Alopecia; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Hair; Humans; Lyases; Monilethrix; Skin Diseases | 1965 |
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Acid; Child; Citrulline; Diet; False Positive Reactions; Humans; Hyperammonemia; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Neonatal Screening; Retrospective Studies; Treatment Outcome; Urea | 2003 |
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cysteine; DNA Mutational Analysis; Founder Effect; Genetic Testing; Genotype; Humans; Infant, Newborn; Mutation, Missense; Neonatal Screening; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Taiwan | 2004 |
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cataract; Child; Child, Preschool; Citrulline; delta-1-Pyrroline-5-Carboxylate Reductase; Female; Humans; Hyperammonemia; Male; Mutation, Missense; Ornithine; Phenotype; Proline; Pyrroline Carboxylate Reductases | 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 |
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Diagnosis, Differential; Female; Fibroblasts; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutation; Neonatal Screening; Ornithine; Ornithine-Oxo-Acid Transaminase; Orotic Acid | 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 novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arginine; DNA Mutational Analysis; Female; Humans; Hyperammonemia; Japan; Male; Mitochondrial Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Proteins | 2006 |
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain; Child; Child, Preschool; Creatine; Female; Glycine; Humans; Infant, Newborn; Male; Pregnancy | 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 |
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Diet, Protein-Restricted; Gyrate Atrophy; Humans; Male; Muscular Diseases; Ornithine; Ornithine-Oxo-Acid Transaminase; Pyridoxine; Vitamin B Complex | 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 |
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Basal Ganglia; Brain Chemistry; Dose-Response Relationship, Drug; Follow-Up Studies; Hepatic Encephalopathy; Humans; Infant, Newborn; Magnetic Resonance Spectroscopy; Male; Occipital Lobe; Time Factors | 2008 |
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Follow-Up Studies; Humans; Hyperammonemia; Infant; Liver Cirrhosis; Liver Transplantation; Male | 2008 |
Treatment of arginosuccinic aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Child; Child, Preschool; Diet Therapy; Female; Fumarates; Hair; Humans; Infant; Intellectual Disability; Lyases; Male; Rats | 1967 |
Arginosuccine aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Citrates; Diet Therapy; Glutamates; Humans; Infant; Intellectual Disability; Ligases; Lyases; Male; Phosphorus; Urea | 1967 |
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Chromatography, Paper; Citrulline; Electroencephalography; Electrophoresis; Female; Humans; Intellectual Disability; Male; Microchemistry; Succinates | 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 |
Citrullinemia with defective urea production.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Ligases; Liver; Seizures; Urea | 1967 |
Inborn metabolic errors of urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography; Humans; Intellectual Disability; Urea | 1967 |
Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Blood Proteins; Child; Child, Preschool; Dietary Proteins; Female; Growth; Hepatomegaly; Humans; Infant; Leukopenia; Liver; Male; Renal Aminoacidurias; Splenomegaly; Urea | 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 |
Hyperornithinaemia and gyrate atrophy of the retina: improvement of vision during treatment with a low-arginine diet.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Depression, Chemical; Humans; Male; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Degeneration; Visual Acuity | 1981 |
[Arginino succinic uria. A patient with neonatal form lived as long as 11 months (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Electroencephalography; Humans; Hydrocephalus; Infant; Liver Diseases; Male; Microcephaly; Pneumonia; Seizures | 1981 |
Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Cells, Cultured; Chorionic Villi; Clinical Enzyme Tests; Female; Humans; Placenta; Pregnancy; Prenatal Diagnosis | 1984 |
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 |
Isoenzyme pattern and immunological properties of arginase in normal and hyperargininemia fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Cell Line; Child; Embryo, Mammalian; Female; Fibroblasts; Humans; Hyperargininemia; Immune Sera; Immunodiffusion; Infant, Newborn; Isoenzymes; Male; Pregnancy; Skin | 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 |
Hyperargininemia: effect of ornithine and lysine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Drug Therapy, Combination; Female; Humans; Lysine; Ornithine | 1983 |
Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Brain; Chromosome Mapping; Digestive System; Erythrocytes; Genes; Humans; Hyperargininemia; Immunodiffusion; Kidney | 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 |
A new French-Canadian family affected by hyperargininaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Erythrocytes; Female; Humans; Hyperargininemia; Infant, Newborn; Male; Orotic Acid; Proteins | 1983 |
Hyperammonemia in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Cystinuria; Humans; Lysine; Male; Ornithine | 1984 |
Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Benzoates; Benzoic Acid; Carbamoyl-Phosphate Synthase (Ammonia); Drug Administration Schedule; Humans; Infant; Injections, Intravenous; Male; Ornithine Carbamoyltransferase Deficiency Disease; Parenteral Nutrition, Total; Phenylacetates; Renal Dialysis; Urea | 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 |
Diagnosis and treatment of argininaemia. Characteristics of arginase in human erythrocytes and tissues.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Dietary Proteins; Erythrocytes; Humans; Hyperargininemia; Infant; Male | 1984 |
Complementation between arginiosuccinate synthetase-deficient and argininosuccinate lyase-deficient fibroblasts depends on intercellular communication.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Cell Communication; Cell Line; Citrulline; Fibroblasts; Humans; Infant, Newborn | 1984 |
Hyperargininemia: the rat as a model for the human disease and the comparative response to enzyme replacement therapy with free arginase and arginase-loaded erythrocytes in vivo.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Disease Models, Animal; Erythrocytes; Hemolysis; Humans; Hyperargininemia; Kinetics; Rats; Rats, Inbred Strains | 1984 |
Treatment of congenital hyperammonemias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Humans; Metabolism, Inborn Errors; Nitrogen; Serotonin; Urea | 1984 |
Hyperammonemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Edema; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Diagnosis, Differential; Female; Humans; Hyperargininemia; Infant; Infant, Newborn; Leucine; Ornithine Carbamoyltransferase; Respiratory Distress Syndrome, Newborn; Urea | 1984 |
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Blood Urea Nitrogen; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Female; Glutamine; Humans; Infant; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1984 |
[A patient with neonatal citrullinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Benzoates; Benzoic Acid; Citrulline; Exchange Transfusion, Whole Blood; Humans; Infant, Newborn; Male | 1983 |
Hyperargininemia: clinical course and treatment with sodium benzoate and phenylacetic acid.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Benzoates; Benzoic Acid; Child, Preschool; Dietary Proteins; Humans; Male; Phenylacetates | 1983 |
Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Benzoic Acid; Combined Modality Therapy; Female; Humans | 1984 |
Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance.
Topics: Administration, Oral; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Arginine; Child; Citrulline; Humans; Male | 1984 |
A successful trial of enzyme replacement therapy in a case of argininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Ammonia; Arginase; Arginine; Child, Preschool; Erythrocytes; Humans; Male | 1984 |
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 |
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 |
Mild variant of argininosuccinic aciduria.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Child; Erythrocytes; Female; Fibroblasts; Genetic Variation; Humans; Leukocytes; Liver; Lyases; Male | 1980 |
[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 |
Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Female; Food, Formulated; Humans; Hyperargininemia; Male | 1982 |
Argininosuccinic aciduria. A developmental and biochemical case study.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Argininosuccinic Acid; Blood Urea Nitrogen; Child; Child, Preschool; Dietary Proteins; Female; Follow-Up Studies; Growth; Humans | 1983 |
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Aciduria; Benzoates; Carbamoyl-Phosphate Synthase (Ammonia); Child; Female; Humans; Male; Middle Aged; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Urea | 1983 |
From the NIH: Therapy developed for group of fatal genetic diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Child, Preschool; Humans; Infant; Infant, Newborn; National Institutes of Health (U.S.); Phenylacetates; United States | 1981 |
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Benzoates; Benzoic Acid; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Infusions, Parenteral; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1982 |
Amino acid content of low-protein recipes.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Arginine; Child; Cooking; Dietary Proteins; Food Analysis; Humans | 1982 |
Successful treatment of severe OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Benzoic Acid; Citrulline; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease | 1982 |
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection; Citric Acid Cycle; Citrulline; Humans; Infant, Newborn; Lyases; Mass Screening; Ornithine; Urea | 1982 |
Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Female; Humans; Intellectual Disability; Middle Aged; Movement Disorders; Schizophrenia | 1982 |
Clinical and biochemical findings in argininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child, Preschool; Consanguinity; Dietary Proteins; Erythrocytes; Female; Humans; Hyperargininemia; Infant; Urea | 1982 |
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cells, Cultured; Citrulline; Fibroblasts; Genetic Complementation Test; Humans; Ligases; Lyases | 1982 |
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargininemia; Ornithine; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Urea | 1982 |
Transient hyperammonemias in infants with and without organic acidemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver; Time Factors; Urea | 1982 |
Guanidino compounds in hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Liquid; Chromatography, Thin Layer; Female; Gas Chromatography-Mass Spectrometry; Glycine; Guanidines; Humans; Hyperargininemia; Succinates | 1982 |
Guanidinosuccinic acid excretion in argininosuccinic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginine; Argininosuccinic Acid; Dietary Carbohydrates; Dietary Proteins; Female; Guanidines; Humans; Succinates | 1982 |
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Electroencephalography; Female; Humans; Intellectual Disability; Lyases; Middle Aged; Pedigree; Seizures; Uric Acid | 1982 |
First case of argininosuccinic aciduria in Japan: clinical observations and treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Erythrocytes; Follow-Up Studies; Humans; Infant; Japan; Lyases; Male | 1982 |
[Familial spastic diplegia and arginemia].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Female; Humans; Male; Muscle Spasticity; Paralysis | 1982 |
Arginosuccinic aciduria with pili torti.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Female; Hair Diseases; Humans; Infant | 1981 |
Isolation and identification of 2-oxo-5-guanidinovaleric acid in urine of patients with hyperargininaemia by chromatography and gas chromatography/mass spectrometry.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemical Phenomena; Chemistry; Chromatography, Liquid; Female; Gas Chromatography-Mass Spectrometry; Guanidines; Humans; Keto Acids; Magnetic Resonance Spectroscopy | 1981 |
Properties of arginase from liver of Macaca fascicularis; comparison of normals with red blood cell arginase deficient monkeys.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Erythrocytes; Liver; Macaca; Macaca fascicularis | 1980 |
Ammonia metabolism in a family affected by hyperargininemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginase; Arginine; Blood Urea Nitrogen; Erythrocytes; Female; Humans; Orotic Acid; Urea | 1981 |
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cell Line; Citrulline; Female; Fibroblasts; Genetic Complementation Test; Humans; Infant, Newborn; Infant, Newborn, Diseases; Ligases; Lyases; Male; Polyethylene Glycols | 1981 |
Arginase activity in human fibroblast cultures.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Cell Line; Cells, Cultured; Embryo, Mammalian; Female; Fibroblasts; Humans; Pregnancy; Skin | 1981 |
Neonatal arginosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Female; Humans; Infant, Newborn | 1981 |
[Argininosuccinyluria-heterozygote detection].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Female; Genetic Carrier Screening; Humans; Middle Aged; Pedigree | 1981 |
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Dietary Proteins; Female; Food, Formulated; Humans; Infant; Infant, Newborn | 1980 |
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Orotic Acid | 1980 |
Treatment of hyperammonemic coma caused by inborn errors of urea synthesis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Child; Child, Preschool; Coma; Exchange Transfusion, Whole Blood; Female; Humans; Infant; Infant, Newborn; Male; Nitrogen; Peritoneal Dialysis; Urea | 1980 |
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 |
Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Epilepsy; Female; Humans; Hyperargininemia; Neurologic Examination; Risk Factors; Valproic Acid | 1995 |
Hyperargininaemia: follow-up of a new case.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Child, Preschool; Diet, Protein-Restricted; Electroencephalography; Erythrocytes; Female; Follow-Up Studies; Humans; Nervous System Diseases | 1995 |
Molecular basis of phenotypic variation in patients with argininemia.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Base Sequence; Child; Child, Preschool; Consanguinity; Ethnicity; Genes, Recessive; Genetic Heterogeneity; Genotype; Humans; Hyperargininemia; Immunoblotting; Infant; Infant, Newborn; Liver; Molecular Sequence Data; Phenotype; Point Mutation | 1995 |
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 |
Arginase deficiency presenting with convulsions.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Epilepsy, Tonic-Clonic; Humans; Hyperargininemia; Infant; Liver Function Tests; Male | 1994 |
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginase; Arginine; Conserved Sequence; Exons; Humans; Hyperargininemia; Liver; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Sequence Analysis, DNA | 1994 |
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Base Sequence; DNA Mutational Analysis; DNA Primers; DNA, Single-Stranded; Glycine; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Male; Methionine; Molecular Epidemiology; Molecular Sequence Data; Nucleic Acid Conformation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Tryptophan; X Chromosome | 1994 |
Biochemical diagnosis and follow-up in a new Italian patient with hyperargininaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Follow-Up Studies; Humans; Hyperargininemia; Male | 1993 |
Arginase deficiency in two brothers.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Hyperargininemia; Infant; Male | 1993 |
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 |
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors | 1993 |
Prospective management of a child with neonatal citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Benzoates; Benzoic Acid; Child Development; Child, Preschool; Citrulline; Female; Humans; Infant; Infant, Newborn; Phenylacetates | 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 |
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 |
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Glutamine; Heterozygote; Humans; Infant, Newborn; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree | 1996 |
Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biopsy; Diagnosis, Differential; Female; Humans; Hyperargininemia; Infant; Infant, Newborn; Jaundice, Neonatal; Liver; Liver Cirrhosis | 1997 |
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 |
Hyperargininaemia: a late-diagnosed Brazilian case with increased urinary excretion of homocystine.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Homocystinuria; Humans; Male | 1997 |
Orthotopic liver transplantation for adult-onset type II citrullinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Arginine; Argininosuccinate Synthase; Brain Edema; Cause of Death; Citrulline; Diet, Protein-Restricted; Disease Progression; Fatal Outcome; Glutamic Acid; Hepatic Encephalopathy; Humans; Immunohistochemistry; Liver; Liver Transplantation; Male; Prognosis; Referral and Consultation | 1997 |
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Anesthetics, Inhalation; Arginine; Argininosuccinic Acid; Enflurane; Fatal Outcome; Female; Humans; Postoperative Complications | 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 |
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Aminomethyltransferase; Arabs; Arginine; DNA Mutational Analysis; Female; Glycine; Histidine; Humans; Hydroxymethyl and Formyl Transferases; Infant, Newborn; Israel; Liver; Male; Mutation; Pedigree; Prenatal Diagnosis | 1998 |
Proceedings of a satellite meeting on advances in inherited urea cycle disorders. Vienna, 20-21 May 1997.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Genetic Therapy; Genome, Human; Humans; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1998 |
Evaluation of gene therapy for citrullinaemia using murine and bovine models.
Topics: Adenoviruses, Human; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Argininosuccinate Synthase; Benzoates; Benzoic Acid; Cattle; Citrulline; Disease Models, Animal; Evaluation Studies as Topic; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Liver; Mice; Nitrogen; Treatment Outcome; Urea | 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 |
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Binding Sites; Biopolymers; Humans; Liver; Molecular Structure; Mutation; Rats | 1998 |
Adult-onset arginase deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Female; Humans; Hyperargininemia | 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 |
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 |
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Base Sequence; Child; Child, Preschool; Chromosomes, Human, Pair 6; Female; Humans; Male; Point Mutation; Polymerase Chain Reaction | 1999 |
Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Enzyme Inhibitors; Injections, Intraperitoneal; Liver; Male; Mice; Mice, Transgenic; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Perfusion; Urea | 1999 |
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Hepatomegaly; Humans; Hyperammonemia; Point Mutation; Psychomotor Disorders; RNA Splicing; Sodium Benzoate | 2000 |
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Catalytic Domain; Child; CHO Cells; Citrulline; Cricetinae; DNA Mutational Analysis; Female; Fibroblasts; France; Humans; Hyperammonemia; Male; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; RNA, Messenger; Transfection | 2000 |
Current strategies for the management of neonatal urea cycle disorders.
Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Antimetabolites, Antineoplastic; Arginine; Dialysis; Extracorporeal Membrane Oxygenation; Humans; Hyperammonemia; Infant, Newborn; Phenylacetates; Sodium Benzoate; Urea | 2001 |
Long-term management of patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Dietary Proteins; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Urea | 2001 |
An experiment of nature: genetic L-arginine deficiency and NO insufficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arginine; Carrier Proteins; Endothelium, Vascular; Humans; Membrane Proteins; Mutation; Nitric Oxide; Vasodilation | 2001 |
Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arginine; Carrier Proteins; Coronary Angiography; Endothelium, Vascular; Exercise Test; Heart; Hemodynamics; Humans; Male; Membrane Proteins; Mutation; Nitric Oxide; Tomography, Emission-Computed; Vasodilation | 2001 |
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Creatine; Dietary Supplements; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Infant; Methyltransferases; Ornithine; Urea | 2001 |
Arginine therapy of argininosuccinase deficiency.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Erythrocytes; Female; Glutamine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lyases; Ornithine; Quaternary Ammonium Compounds | 1979 |
Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Benzoates; Carbamoyl-Phosphate Synthase (Ammonia); Dietary Proteins; Fabry Disease; Hippurates; Humans; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phytanic Acid; Plasmapheresis; Refsum Disease; Trihexosylceramides; Urea | 1979 |
Unsuccessful trial of gene replacement in arginase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Enzyme Induction; Humans; Hyperargininemia; Injections, Intravenous; Papillomaviridae; Rabbits; Tumor Virus Infections | 1975 |
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Genes; Genes, Regulator; Humans; Infant, Newborn; Infant, Newborn, Diseases; Kidney; Liver; Lyases; Ornithine Carbamoyltransferase; Pedigree; Phosphotransferases; Urea | 1976 |
Reflections on issues posed by recombinant DNA molecule technology. II.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cottontail rabbit papillomavirus; DNA, Viral; Ethics, Medical; Female; Genetic Engineering; Humans; Male; Recombination, Genetic | 1976 |
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Chromosome Mapping; Chromosomes, Human, 6-12 and X; Electrophoresis; Genes; Humans; Hybrid Cells; Lyases | 1978 |
Arginase and free amino acids in hyperargininemia: leukocyte arginine as a diagnostic parameter for heterozygotes.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Erythrocytes; Heterozygote; Humans; Leukocytes | 1979 |
Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria".
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Arginine; Argininosuccinic Acid; Female; Fetus; Genetic Carrier Screening; Homocystinuria; Homozygote; Humans; Pregnancy; Prenatal Diagnosis | 1979 |
Argininemia treated from birth.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Hyperargininemia; Infant; Infant, Newborn; Infant, Newborn, Diseases | 1979 |
Hyperargininemia with arginase deficiency.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Child; Female; Humans; Hyperargininemia; Male | 1979 |
Argininosuccinic aciduria: prenatal studies in a family at risk.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Child, Preschool; Female; Humans; Male; Pregnancy | 1979 |
Excretion of alpha-keto-delta-guanidinovaleric acid and its cyclic form in patients with hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Female; Guanidines; Humans; Keto Acids; Valerates | 1979 |
Arginine as an essential amino acid in children with argininosuccinase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Lyase; Female; Humans; Infant, Newborn; Injections, Intravenous; Lyases | 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 |
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Dietary Proteins; Female; Humans; Milk Proteins; Orotic Acid; Urea | 1978 |
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 |
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Blood Proteins; Female; Humans; Seizures; Serum Albumin | 1978 |
Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrates; Dietary Proteins; Humans; Lactulose; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 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 |
[Hyperargininemia].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Humans; Rabbits | 1978 |
[Citrullinemia and argininosuccinic aciduria].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Citrulline; Humans; Infant; Infant, Newborn; Male | 1978 |
Treatment of argininosuccinic aciduria with keto analogues of essential amino acids.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Creatinine; Female; Glutamine; Glycine; Humans; Keto Acids; Methylhistidines | 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 |
Argininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Erythrocytes; Female; Genes, Recessive; Humans; Hyperargininemia; Infant; Male; Pedigree | 1977 |
Hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Chromatography; Dietary Proteins; Erythrocytes; Humans; Hyperargininemia; Male | 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 |
Human hyperargininemia: a mutation not expressed in skin fibroblasts?
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Cells, Cultured; Erythrocytes; Female; Fibroblasts; Humans; Hyperargininemia; Isoenzymes; Male; Mutation; Skin | 1977 |
Nitrogen metabolism in neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Nitrogen; Ornithine; Urea | 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 |
Effect of dietary protein and physical exercise on patients with arginino-succinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Child; Dietary Proteins; Female; Humans; Nutritional Requirements; Physical Exertion; Urea | 1977 |
Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Epilepsy; False Positive Reactions; Female; Glutamine; Humans; Infant; Male; Middle Aged; Ornithine; Phenobarbital; Primidone; Urea | 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 |
Letter: Survival of infant with argininosuccinic aciduria to 3 months of age.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Female; Humans; Infant; Infant, Newborn; Succinates | 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 |
[Argininosuccinic acid, technics of biochemical study (apropos of a case of argininosuccinyluria)].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Humans; Lyases; Succinates | 1975 |
Citrulline metabolism in normal and citrullinemic human lymphocyte lines.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Cell Line; Citrulline; Genes; Genetic Variation; Humans; Kinetics; Lymphocytes; Mutation; Urea | 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 |
Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Cataract; Choroid; Histidine; Humans; Male; Muscles; Muscular Atrophy; Ornithine; Retinal Diseases; Retinal Vessels; Uveal Diseases; Visual Fields | 1975 |
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Erythrocytes; Homozygote; Humans; Hyperargininemia; Urea | 1976 |
[The dibasic amino acid metabolic disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hyperargininemia; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Renal Dialysis | 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 |
Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Guanidines; Homoarginine; Humans; Hyperargininemia; Infant | 1990 |
Absence of erythrocyte arginase protein in Japanese patients with hyperargininemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Child; Child, Preschool; Electrophoresis, Polyacrylamide Gel; Erythrocytes; Female; Humans; Hyperargininemia; Immunoblotting; Japan; Male | 1991 |
Hyperargininemia: intellectual and motor improvement related to changes in biochemical data.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Female; Guanidines; Humans; Intelligence; Motor Skills; Muscle Spasticity; Muscles; Psychomotor Performance | 1991 |
Management of arginine monohydrochloride extravasation in the forearm.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Child; Debridement; Extravasation of Diagnostic and Therapeutic Materials; Forearm; Humans; Infusions, Intravenous; Male; Necrosis; Skin; Skin Transplantation | 1991 |
Lysine transport in human kidney.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Humans; Kidney Tubules; Lysine; Male; Ornithine | 1990 |
A new case of argininaemia without spastic diplegia in a Portuguese male.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Humans; Hyperargininemia; Male; Muscle Spasticity; Portugal | 1990 |
A new case of hyperargininaemia: neurological and biochemical findings prior to and during dietary treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Evoked Potentials, Auditory; Humans; Male | 1990 |
Citrate therapy in argininosuccinate lyase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Aspartic Acid; Child; Citrates; Citric Acid; Citrulline; Female; Humans; Infant; Lyases | 1990 |
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Anorexia; Arginine; Argininosuccinic Acid; Child; Dietary Proteins; Feeding and Eating Disorders; Feeding Behavior; Female; Humans; Hydroxyindoleacetic Acid; Serotonin; Sleep, REM; Tryptophan | 1986 |
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 |
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Central Nervous System Diseases; Child; Creatine; Electron Transport; Female; Humans; Mitochondria, Muscle | 1989 |
Citrullinemia: early diagnosis & successful management of an otherwise lethal disorder.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Citrulline; Female; Humans; India; Infant, Newborn | 1989 |
Argininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Female; Humans | 1989 |
Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Dietary Proteins; Genetic Carrier Screening; Humans; Infant; Male; Ornithine Carbamoyltransferase Deficiency Disease | 1989 |
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death?
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Consanguinity; Diagnosis, Differential; Female; Humans; Infant, Newborn; Sepsis | 1989 |
[Argininosuccinic aciduria. A new case revealed by psychiatric disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Chromosomes, Human, Pair 7; Humans; Male; Phenotype | 1989 |
Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Cells, Cultured; Child, Preschool; Citrulline; Fibroblasts; Humans; Infant, Newborn; Kinetics; Ligases; Mutation; Skin | 1989 |
Molecular aspects of urea cycle enzymes and related disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ammonia; Animals; Arginine; Base Sequence; DNA, Circular; Escherichia coli; Humans; Molecular Sequence Data; Polymorphism, Restriction Fragment Length; Rats; Saccharomyces cerevisiae; Species Specificity | 1987 |
[Argininemia (arginase deficiency)].
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Chromosome Mapping; DNA; Humans; Polymorphism, Restriction Fragment Length | 1988 |
A new case of arginase deficiency in a Spanish male.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Dietary Proteins; Humans; Hyperargininemia; Infant, Newborn; Male; Spain | 1986 |
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Female; Humans; Male; Metabolic Diseases; Valproic Acid | 1987 |
Argininosuccinic aciduria: long-term treatment with arginine.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Erythrocytes; Humans; Male; Mitochondria, Liver | 1987 |
Hyperargininaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Dietary Proteins; Humans; Male | 1987 |
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 |
Increased urinary excretion of putrescine in hyperargininaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Cystinuria; Humans; Male; Ornithine; Putrescine | 1987 |
[Arginine requirement for living. Comments and questions on the treatment of inborn errors of metabolism in Spain].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Nutritional Requirements; Spain | 1988 |
Pitfalls in the prenatal diagnosis of argininosuccinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Diagnostic Errors; Female; Humans; Pregnancy; Prenatal Diagnosis | 1988 |
[Argininosuccinic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Cloning, Molecular; DNA; Enzyme-Linked Immunosorbent Assay; Humans | 1988 |
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Brain; Child; Citrulline; Endoplasmic Reticulum; Humans; Liver Glycogen; Male; Mitochondria, Liver; Ornithine; Tomography, X-Ray Computed | 1988 |
Increased urinary excretion of argininosuccinate in type II citrullinemia.
Topics: Administration, Oral; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Citrulline; Female; Humans; Infant; Infant, Newborn; Kidney; Male | 1987 |
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Citrulline; Cloning, Molecular; DNA; Enzyme-Linked Immunosorbent Assay; RNA, Messenger; Urea | 1987 |
Enzyme replacement therapy in a patient with hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Blood Transfusion; Child, Preschool; Humans; Hyperargininemia; Male; Ornithine | 1987 |
Liver fibrosis in arginase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Hyperargininemia; Infant; Liver Cirrhosis | 1987 |
[Hyperargininemia. Clinical aspects and molecular basis of the defect].
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Genes, Recessive; Humans; Hyperargininemia; Mutation | 1987 |
Gyrate atrophy of the choroid and retina. The ocular disease progresses in juvenile patients despite normal or near normal plasma ornithine concentration.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Child; Choroid; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina; Transaminases; Visual Acuity | 1987 |
Severe liver fibrosis in argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Humans; Infant, Newborn; Liver; Liver Cirrhosis; Liver Diseases; Male; Phenotype | 1986 |
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Erythrocytes; Humans; Immunochemistry; Infant, Newborn; Kidney; Liver; Lyases; Male; Urea | 1986 |
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 |
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Female; Humans; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis | 1985 |
Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Biopsy; Citric Acid Cycle; Citrulline; Epidermis; Erythema; Humans; Infant; Infant, Newborn; Ligases; Male; Neutrophils; Parakeratosis; Skin Diseases | 1986 |
Guanidino compounds in plasma, urine and cerebrospinal fluid of hyperargininemic patients during therapy.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anorexia Nervosa; Arginine; Benzoates; Benzoic Acid; Child; Female; Guanidines; Humans; Hyperargininemia; Male | 1985 |
Human salivary arginase and its deficiency in argininaemia.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Antigen-Antibody Reactions; Arginase; Arginine; Child, Preschool; Chromatography, DEAE-Cellulose; Chromatography, Ion Exchange; Drug Stability; Female; Humans; Hyperargininemia; Immune Sera; Infant; Male; Middle Aged; Saliva | 1985 |
Argininosuccinic aciduria. Report of three cases and the effect of high and reduced protein intake on the clinical state.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Blood Urea Nitrogen; Cerebellar Ataxia; Child; Developmental Disabilities; Diet Therapy; Dietary Proteins; Electroencephalography; Female; Hair; Humans; Intellectual Disability; Succinates | 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 |
Deficient argininosuccinase activity in brain in argininosuccinicaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Brain Chemistry; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Lyases; Male; Succinates | 1968 |
Argininosuccinic aciduria. A case.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Developmental Disabilities; Diet Therapy; Humans; Infant; Infant, Newborn; Male; Succinates | 1969 |
Argininosuccinase activity in amniotic-fluid cells.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Arginine; Female; Fetal Diseases; Fibroblasts; Humans; Lyases; Pregnancy; Succinates | 1970 |
Iatrogenic cystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography; Cystinuria; Growth Disorders; Growth Hormone; Humans | 1970 |
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bacillus subtilis; Biological Assay; Carboxy-Lyases; Electrophoresis, Starch Gel; Enzymes; Erythrocytes; Glycolysis; Humans; Immunoelectrophoresis; Infant, Newborn; Lyases; Mass Screening; Metabolism, Inborn Errors; Methods; Orotic Acid; Pyrimidine Nucleotides; Succinates | 1972 |
Argininosuccinic aciduria: antenatal investigations in an affected family.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Arginine; Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Infant; Intellectual Disability; Lyases; Male; Renal Aminoacidurias; Succinates | 1974 |
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 |
Argininosuccinicaciduria: clinical, metabolic and dietary study.
Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Ataxia; Child; Citrulline; Dietary Proteins; Electroencephalography; Epilepsy; Female; Humans; Intellectual Disability; Intelligence Tests; Male; Ornithine; Phenobarbital; Seizures; Succinates; Tremor | 1974 |
Inhibition of entry of some amino acids into the brain, with observations on mental retardation in the aminoacidurias.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Biological Transport, Active; Brain; Caproates; Carbon Radioisotopes; Depression, Chemical; Drug Interactions; Humans; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Rats; Rats, Inbred Strains; Stimulation, Chemical; Threonine | 1974 |
Letter: hyperlysinaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Electroencephalography; Female; Growth; Humans; Intellectual Disability; Lysine; Male | 1974 |
[A case of neonatal arginino-succinyluria. Trial diet therapy].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Clinical Enzyme Tests; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lyases; Succinates | 1974 |
Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginase; Arginine; Blood Urea Nitrogen; Chromatography, Ion Exchange; Chromatography, Paper; Disease Models, Animal; Erythrocytes; Haplorhini; Liver; Macaca | 1972 |
[Congenital disorders in the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Humans; Intellectual Disability; Male | 1972 |
Familial hyperargininemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Child; Child, Preschool; Female; Humans; Infant, Newborn | 1972 |
Further investigations in hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Epilepsy; Erythrocytes; Female; Genes, Recessive; Guanidines; Humans; Intellectual Disability | 1972 |
Pediatric clinical aspects of aminoacidopathies.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Pregnancy; Sex Factors; Succinates; Urea | 1972 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
Argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Chromatography, Thin Layer; Citric Acid Cycle; Diet Therapy; Humans; Infant; Intellectual Disability; Karyotyping; Male; Muscle Tonus; Muscular Diseases; Nitrogen; Seizures; Succinates; Urea | 1973 |
Citrullinemia and an alternative urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant; Lysine; Urea | 1973 |
Urinary excretion of argininosuccinic acid.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Autoanalysis; Barium; Chromatography, Ion Exchange; Chromatography, Paper; Electrophoresis, Paper; Female; Heterozygote; Homozygote; Humans; Infant, Newborn; Male; Middle Aged; Succinates | 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 |
Antenatal diagnosis of argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Arginase; Arginine; Carbon Radioisotopes; Cells, Cultured; Female; Fetus; Fibroblasts; Gestational Age; Humans; Ligases; Liver; Lyases; Methods; Ornithine Carbamoyltransferase; Pregnancy; Prenatal Diagnosis; Succinates | 1973 |
Genetic screening: notes added in proof.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates | 1973 |
[Arginino-succinate aciduria].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Dermatoglyphics; Female; Humans | 1973 |
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 |
Amino acid levels in patients with hyperammonaemia and argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Drug Stability; Humans; Ornithine Carbamoyltransferase; Succinates; Time Factors | 1974 |
Citrullinemia: investigation and treatment over a four-year period.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrulline; Dietary Proteins; Dipeptides; Female; Fibroblasts; Follow-Up Studies; Guanidines; Humans; Infant; Infant, Newborn; Orotic Acid; Peptide Synthases; Urea; Uric Acid | 1974 |
[Letter: Survival to the age of 3 months of an infant with neonatal arginino-succinyluria].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Exchange Transfusion, Whole Blood; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Succinates | 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 |
Severe neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Citrulline; Dietary Carbohydrates; Dietary Proteins; Glucose; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Male; Seizures; Urea | 1974 |
The relationship between the formation of urea and argininosuccinate in a patient with argininosuccinic aciduria studied with labelled precursors.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Carbamates; Carbon Radioisotopes; Citrulline; Cystinuria; Guanidines; Humans; Lyases; Male; Middle Aged; Nitrogen Isotopes; Quaternary Ammonium Compounds; Serum Globulins; Succinates; 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 |
Argininosuccinase from bovine kidney: comparison of catalytic, physical, and chemical properties with the enzyme from bovine liver.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonium Sulfate; Animals; Antigens; Arginine; Catalysis; Cattle; Chromatography, DEAE-Cellulose; Cold Temperature; Hydrogen-Ion Concentration; Immunodiffusion; Kidney; Liver; Lyases; Molecular Weight; Spectrophotometry; Succinates; Ultracentrifugation | 1971 |
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 |
A microassay for argininosuccinase in cultured cells.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Arginine; Carbon Isotopes; Cell Line; Cells, Cultured; Citrulline; Female; Fetal Diseases; Fibroblasts; Humans; Lyases; Male; Pregnancy; Skin; Succinates | 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 |
[Arginosuccinicaciduria. Allan's disease].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Humans; Male; Succinates | 1972 |
New derivatives of argininosuccinic acid in the urine of a patient with argininosuccinicaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Azepines; Chromatography; Deuterium; Electrophoresis; Humans; Hydrogen-Ion Concentration; Imidazoles; Magnetic Resonance Spectroscopy; Stereoisomerism; Structure-Activity Relationship; Succinates | 1972 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine | 1971 |
[Monilethrix: value of urinary aminoacid determinations].
Topics: Adult; Alopecia Areata; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Chromatography; Hair; Humans; Male; Skin Diseases; Succinates | 1971 |
The pathological findings in a case of argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Autopsy; Brain Stem; Calcinosis; Cerebral Cortex; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lyases; Male; Neuroglia; Succinates | 1971 |
Hereditary disorders of amino acid metabolism associated with mental deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Citrulline; Deficiency Diseases; Hartnup Disease; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylketonurias; Succinates | 1969 |
[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 |
[Special course of arginine succinic acid disease].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Chromatography, Paper; Electroencephalography; Female; Hair; Humans; Lyases; Succinates | 1969 |
[A simple method of thin-layer chromatography for the identification of arginosuccinicaciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Thin Layer; Genes, Recessive; Humans; Infant; Infant, Newborn; Methods; Succinates | 1969 |
Argininosuccinic aciduria. Case report with neuropathological findings.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Ataxia; Autopsy; Brain; Cerebral Cortex; Epilepsy; Humans; Intellectual Disability; Liver; Lyases; Male; Pedigree; Sleep Wake Disorders; Succinates; Thalamus | 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 |
[Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Arginine; Chromatography, Paper; Cystinuria; Erythrocytes; Female; Humans; Infant; Liver; Male; Pedigree | 1970 |
[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies].
Topics: Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Diagnosis, Differential; Diet Therapy; Erythrocytes; Female; Fructose-Bisphosphate Aldolase; Humans; Infant; Male; Pedigree; Pneumoencephalography; Transaminases; Urea | 1970 |
Two-dimensional thin-layer chromatography on two-layer plates of amino acids.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cellulose; Chromatography, Thin Layer; Histidine; Humans; Metabolism, Inborn Errors; Methods; Solvents; Succinates | 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 |
[Monilethrix: value of the determination of urinary amino acids].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Female; Hair; Humans; Male; Skin Diseases; Succinates | 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 |
Argininosuccinicaciduria--a case report on a rare condition.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Humans; Male; Succinates | 1968 |
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 |
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 |
Guanidinosuccinic acid in renal failure, experimental azotemia and inborn errors of the urea cycle.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Child; Child, Preschool; Chromatography, Ion Exchange; Electrophoresis; Guanidines; Humans; Infant; Kidney Failure, Chronic; Peritoneal Dialysis; Rats; Succinates; Urea; Uremia | 1969 |
[Congenital metabolic disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Female; Humans; Infant; Infant, Newborn; Male; Succinates; Urea | 1969 |
Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Aspartic Acid; Brain; Cerebellum; Citrulline; Female; Humans; Infant; Intellectual Disability; Liver; Lyases; Myelin Sheath; Neuroglia; Succinates | 1969 |
A familial study of a human enzyme defect, argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Citrulline; Humans; Molecular Biology; Succinates; Urine | 1964 |
[Argininuria, convulsions and oligophrenia; a new inborn error of metabolism?].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Humans; Infant; Intellectual Disability; Male; Seizures | 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 |