leucine has been researched along with BCKD Deficiency in 236 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 126 (53.39) | 18.7374 |
| 1990's | 30 (12.71) | 18.2507 |
| 2000's | 38 (16.10) | 29.6817 |
| 2010's | 24 (10.17) | 24.3611 |
| 2020's | 18 (7.63) | 2.80 |
| Authors | Studies |
|---|---|
| Eminoğlu, FT; Kahveci, F; Kendirli, T; Köse, E; Kraja, E; Okulu, E; Öncül, Ü | 1 |
| Al Hinai, A; Al Mandhari, H; Al Murshedi, F; Al Shidhani, A; Al Thihli, K; Al Yaarubi, S; Al-Hashmi, N; Ullah, I | 1 |
| Çelik, M; Deger, İ; Samancı, S; Taş, İ | 1 |
| Canarim, RO; Candiotto, G; de Medeiros, BZ; Dos Santos, PCL; Duarte, MB; Generoso, JS; Lemos, IS; Rico, EP; Scaini, G; Streck, EL; Torres, CA; Wessler, LB | 1 |
| Amaral, AU; Wajner, M | 1 |
| Abi-Wardé, MT; Alili, JM; Arnoux, JB; Berleur, MP; Brassier, A; Broissand, C; Dao, M; de Lonlay, P; Dubois, S; Grisel, C; Guemman, AS; Husson, MC; Mention, K; Schiff, M; Servais, A | 1 |
| Bernardo, HT; Candiotto, G; da Silva Lemos, I; da Silva, GL; Duarte, MB; Petronilho, F; Rico, EP; Streck, EL; Torres, CA; Wessler, LB | 1 |
| Charrow, J; Haymond, S; Lin, DC; Miller, A; Piri-Moghadam, H; Pronger, D; Vicente, F | 1 |
| Balcı, MC; Gökçay, GF; Karaca, M; Kozanoğlu, T | 1 |
| Alano, CG; da Silva Lemos, I; da Silva, GL; Dondossola, ER; Duarte, MB; Effting, PS; Medeiros, BZ; Rico, EP; Streck, EL; Torres, CA | 1 |
| Liu, Y; Qu, W; Sun, LY; Wei, L; Zeng, ZG; Zhang, HM; Zhang, JP; Zhu, ZJ | 1 |
| Deon, M; Girardi, J; Guerreiro, G; Ribas, G; Vargas, CR | 1 |
| Chen, T; Gao, X; Gu, X; Han, L; Ji, W; Liang, L; Lu, D; Qiu, W; Xu, F; Zhan, X; Zhang, H | 1 |
| Asfaha, J; Ching, C; Chng, C; Das, S; Du, F; Duan, D; Huisman, G; Ismaili, MHA; Jenne, S; Kruse, N; Lao, UL; Liu, J; Mashiana, H; McCluskie, K; Mehmood, R; Pope, L; Riggins, J; Sero, A; Silverman, AP; Skvorak, K; Teadt, L; Yan, P | 1 |
| Candiotto, G; de Oliveira, J; Dos Santos, PCL; Farias, HR; Rico, EP; Ronsani, JF; Streck, EL; Wessler, LB | 1 |
| Campuzano-García, AE; Castanedo-Cázares, JP | 1 |
| Attri, SV; Dhawan, SR; Saini, AG; Vyas, S | 1 |
| Beiler, K; Bowser, LE; Brigatti, KW; Carson, VJ; Chopko, S; Haas-Givler, B; Hailey, J; Heaps, AD; Hendrickson, C; Loeven, K; Mazariegos, GV; Morton, DH; Muelly, ER; Puffenberger, EG; Radcliff, Z; Robinson, DL; Rodrigues, A; Shellmer, DA; Soltys, K; Strauss, KA; Taylor, CM; Williams, KB; Young, ME | 1 |
| Abdul-Mawgoud, R; Elbaik, L; Gamal, R; Hassan, M; Hassan, N; Imtiaz, F; Khalifa, OA; Moustafa, AS; Ramzan, K; Rihan, S; Salam, E; Saleh, E; Seoudi, D; Zaki, O | 1 |
| Awan, A; Borovickova, I; Carson, K; Crushell, E; Häberle, J; Hughes, J; Hunter, K; Knerr, I; Lynch, B; Mayne, P; Monavari, AA; O'Reilly, D; Riordan, M; Rogers, Y; Rüfenacht, V; Ryan, S; Shahwan, A; Treacy, EP | 1 |
| Abacan, MAR; Abadingo, ME; Castro-Hamoy, L; Chiong, MAD; Dator, MA; Estrada, SC; Maceda, EBG; Magbanua-Calalo, CJ; Resontoc, LPR | 1 |
| Abi Warde, MT; Arnoux, JB; Barbier, V; Benoist, JF; Bouchereau, J; Brassier, A; Broué, P; Cano, A; Chabrol, B; Damon, G; de Lonlay, P; Gay, C; Guillain, I; Habarou, F; Imbard, A; Lamireau, D; Leduc-Leballeur, J; Ogier de Baulny, H; Ottolenghi, C; Paermentier, L; Pichard, S; Sabourdy, F; Schiff, M; Touati, G | 1 |
| Addington, A; Hutson, SM; Sperringer, JE | 1 |
| Abi-Wardé, MT; Alili, JM; Arnoux, JB; Assoun, M; Barbier, V; Bayart, M; Belloche, C; Brassier, A; Chadefaux-Vekemans, B; de Lonlay, P; Dubois, S; Dupic, L; Habarou, F; Husson, MC; Leboeuf, V; Lesage, F; Ottolenghi, C; Pontoizeau, C; Roda, C; Servais, A; Theuil, B | 1 |
| Cowan, TM; Cusmano-Ozog, K; Enns, GM; Scott, AI | 1 |
| Grünert, SC; Mingirulli, N; Rosenbaum-Fabian, S; Schumann, A; Schwab, KO; Spiekerkoetter, U | 1 |
| Andrés, A; Camarena, C; de la Vega, Á; Díaz, C; Díaz, VM; Hernández, F; Jara, P; López, M; Martínez-Pardo, M | 1 |
| Dutra-Filho, CS; Guerreiro, G; Manfredini, V; Mescka, CP; Vargas, CR; Wayhs, CA | 1 |
| Bóveda, MD; Bueno, MA; Couce, ML; Díaz, J; Fernández-Marmiesse, A; García-Cazorla, A; Meavilla, S; Ramos, F | 1 |
| Benkert, AR; Camelo, JS; Chapchap, P; da Fonseca, EA; Feier, F; Margutti, AV; Mazariegos, GV; Miura, I; Pinto e Vairo, F; Puffenberger, EG; Schwartz, IV; Seda Neto, J; Strauss, KA; Vieira, S; Zanotelli, ML | 1 |
| Cho, D; Kim, MI; Park, HG; Park, JH; Sim, SJ; Woo, MA | 1 |
| Karkra, S; Mohan, N; Rastogi, A; Soin, AS; Vohra, V | 1 |
| A Gutierrez, M; Hsu, Y; J Lopez, A; K Kennedy, B; M Nguyen, S; Mateen, S; N O'Leary, M; P Mitchell, K; Ramanathan, A; S Sonnet, D; Vockley, J | 1 |
| Matsuo, M; Padilla, CD; Silao, CL | 1 |
| Costigan, D; Harty, S; King, MD; McCoy, B; Treacy, EP | 1 |
| Chiong, MA; Cutiongco-De la Paz, EM; Estrada, SC; Lee, JY; Padilla, CD; Silao, CL | 1 |
| Darvish, M; Ebrahimi, SA; Ghadam, P | 1 |
| Barschak, AG; Busanello, EN; Cipriani, F; Coelho, DM; Deon, M; Dutra-Filho, CS; Giugliani, R; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Coker, M; Duran, M; Habif, S; Kalkan Ucar, S; Karapinar, B; Kitis, O; Saz, EU; Ucar, H | 1 |
| Hendrickson, C; Morton, DH; Moser, AB; Puffenberger, EG; Rider, NL; Robinson, D; Shellmer, D; Shelmer, D; Strauss, KA; Wardley, B | 1 |
| Amaral, AU; Fernandes, CG; Leipnitz, G; Schuck, PF; Seminotti, B; Wajner, M | 1 |
| Abdenur, JE; Chang, R; Levine, S; Lipson, MH; Lorey, F; Matern, D; Puckett, RL; Rinaldo, P; Sowa, ME; Wang, RY | 1 |
| Hadzik, B; Höhn, T; Thimm, E | 1 |
| Haberstich, P; Kindler, CH; Schürch, M | 1 |
| Karnes, HT; Miller, JH; Poston, PA | 1 |
| Desviat, LR; Martínez-Pardo, M; Merinero, B; Navarrete, R; Oyarzabal, A; Rodríguez-Pombo, P; Ugarte, M | 1 |
| Campos, AG; de Franceschi, ID; Feksa, LR; Rech, VC; Rieger, E; Rojas, DB; Vargas, AP; Wannmacher, CM | 1 |
| Gao, XL; Gu, XF; Han, LS; Li, XY; Qiu, WJ; Wang, Y; Xu, H; Yang, N; Ye, J; Zhang, HW | 1 |
| Görtz, P; Köller, H; Schwahn, B; Siebler, M; Wendel, U | 1 |
| Cardozo, RF; Dornelles, PK; Dutra-Filho, CS; Pilla, C; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Cardozo, RF; Dutra-Filho, CS; Pilla, C; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Deng, C; Deng, Y | 1 |
| Araldi, J; Bridi, R; Durigon, K; Dutra-Filho, CS; Sgarbi, MB; Testa, CG; Wajner, M | 1 |
| MACKENZIE, DY; WOOLF, LI | 1 |
| DANCIS, J; LEVITZ, M; MILLER, S; WESTALL, RG | 1 |
| CROME, L; DUTTON, G; ROSS, CF | 1 |
| DENT, CE; WESTALL, RG | 1 |
| PATRICK, AD | 1 |
| TASHIAN, RE | 1 |
| HOLT, LE | 1 |
| DANCIS, J; HUTZLER, J; LEVITZ, M | 2 |
| FAULKNER, WR; LONSDALE, D; MERCER, RD | 1 |
| WESTALL, RG | 1 |
| DANCIS, J; HUTZLER, J; JANSEN, V; LEVITZ, M | 1 |
| EHRLICH, M; GRAUL, EH; HUNDESHAGEN, H; LINNEWEH, F | 1 |
| TIMMERMANS, J | 1 |
| HOLT, LE; SNYDERMAN, SE | 1 |
| SILBERMANSCHWARTZMAN, J | 1 |
| BOWMAN, JK; LYNCH, GA; MONTGOMERY, JN; VOYCE, MA | 1 |
| DANCIS, J | 1 |
| KIIL, R; ROKKONES, T | 1 |
| HOLT, LE; NORTON, PM; ROITMAN, E; SNYDERMAN, SE | 2 |
| BARBER, DH; LONSDALE, D | 1 |
| EFRON, ML | 1 |
| HARRIS, JA; WOODY, NC | 1 |
| Danner, DJ; Doering, CB; Kasinski, A | 1 |
| Grange, DK; Hmiel, SP; Landt, M; Levy, FH; Martin, RA | 1 |
| Braum, CA; Bridi, R; Dutra-Filho, CS; Latini, A; Lissi, E; Moacir, W; Zorzi, GK | 1 |
| Daikhin, Y; Horyn, O; Lazarow, A; Luhovyy, B; Nissim, I; Yudkoff, M | 1 |
| Endo, F; Mitsubuchi, H; Owada, M | 1 |
| Hubert, P; Jouvet, P; Man, NK; Rabier, D; Saudubray, JM | 1 |
| Hallam, P; Lee, PJ; Lilburn, M | 1 |
| Astruc, J; Bellet, H; Brunel, D; Froye, E; Luciani, JM; Magnan de Bornier, P | 1 |
| Charrow, J | 1 |
| Helbling, C; Hoffmann, B; Schadewaldt, P; Wendel, U | 1 |
| Cropcho, L; Finegold, DN; Hendrickson, C; Mazariegos, GV; McGhee, W; Morton, DH; Puffenberger, EG; Robinson, DL; Seward, LM; Sindhi, R; Squires, R; Strauss, KA; Virji, M; Vockley, G | 1 |
| Clermont, MJ; Jouvet, P; Lambert, M; Litalien, C; Merouani, A; Mitchell, G; Phan, V; Tucci, M | 1 |
| Barshop, BA; Hart, M; Hassanein, T; Khanna, A; Nyhan, WL; Panyard-Davis, J | 1 |
| Baumkötter, J; Fingerhut, R; Konstantopoulou, V; Ratschmann, R; Simon, E; Wendel, U | 1 |
| Bhattacharya, K; Carpenter, K; Khalili, V; Wilcken, B; Wiley, V | 1 |
| Barden, AT; Barschak, AG; Deon, M; Dutra-Filho, CS; Schmitt, GO; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Kowalik, A; Narojek, L; Sykut-Cegielska, J | 1 |
| Barden, AT; Barschak, AG; Deon, M; Dutra-Filho, CS; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Dancis, J; Hutzler, J; Rokkones, T | 1 |
| Snyderman, SE | 1 |
| Donnell, GN; Koch, R; Lieberman, E; Shaw, KN | 1 |
| Moser, HW; Prensky, AL | 1 |
| Smith, GA | 1 |
| Martin, JK; Norman, RM | 1 |
| Halvorsen, S; Kindt, E | 1 |
| Cabrera, HN; Savoia, J | 1 |
| Shapira, R; Tribble, D | 1 |
| Langenbeck, U; Wendel, U | 1 |
| Goldstein, F; Norton, PM; Sansaricq, C; Snyderman, SE | 1 |
| Barrio, MI; del Valle, JA; García Aparicio, J; García Hortelano, J; García Miguel, MJ; García, MJ; González, F; Merinero, B; Morales, E; Sáez Pérez, E | 1 |
| Akaboshi, I; Jinno, Y; Katsuki, T; Matsuda, I | 1 |
| Shih, VE | 1 |
| Bremer, HJ; Langenbeck, U; Lombeck, I; Wendel, U | 2 |
| Amédée-Manesme, O; Charpentier, C; Coudé, FX; Depondt, E; Frézal, J; Munnich, A; Ogier, H; Rey, F; Saudubray, JM | 1 |
| Kerr, D; Ruch, T | 1 |
| DiGeorge, AM; Garibaldi, LR; Rezvani, I; Schwartz, M | 1 |
| Harper, AE; Hutson, SM | 1 |
| Claussen, U; Gamm, G; Wendel, U | 1 |
| Becker, K; Bulla, M; Langenbeck, U; Manegold, C; Mench-Hoinowski, A; Przyrembel, H; Wendel, U | 1 |
| Ben-Galim, E; Bier, DM; Haymond, MW; Matthews, DE | 1 |
| Honig, J; Kalmijn, M; Korein, J; Lange, B; Sansaricq, C | 1 |
| Chace, DH; Hillman, SL; Kahler, SG; Millington, DS; Naylor, EW; Roe, CR | 1 |
| Gonzales, J; Hummel, W; Wendel, U | 1 |
| Danner, DJ; Ellerine, NP; Elsas, LJ; Herring, WJ; Klein, PD; McKean, MC | 1 |
| Beaudet, AL; Levin, ML; Lewis, RA; Scheimann, A | 1 |
| Koch, SE; Koch, TK; Packman, S; Williams, ML | 1 |
| Awiszus, D; Hilliges, C; Wendel, U | 1 |
| Ellerine, NP; Elsas, LJ; Klein, PD | 1 |
| Bodamer, OA; Halliday, D; Leonard, JV | 1 |
| Sherbotie, JR | 1 |
| Baab, PJ; Collins, RM; Huang, Y; Tildon, JT; Zielke, CL; Zielke, HR | 1 |
| Schadewaldt, P; Wendel, U | 1 |
| Hubert, P; Jouvet, P; Man, NK; Michel, JL; Poggi, F; Rabier, D; Saudubray, JM; Sposito, M | 1 |
| Bellisario, R; Pass, KA; Reilly, AA | 1 |
| Grünewald, S; Hinrichs, F; Wendel, U | 1 |
| Bodner, A; Brösicke, H; Hammen, HW; Schadewaldt, P; Wendel, U | 1 |
| Barshop, BA; Klein, J; Nyhan, WL; Rice-Kelts, M | 1 |
| Akeda, H; Aoki, K; Hashimoto, K; Ikeda, T; Inoue, F; Ito, M; Kawamura, M; Koga, Y; Kohno, Y; Kuroda, Y; Maesaka, H; Murakamisoda, H; Sugiyama, N; Suzuki, Y; Yano, S; Yoshino, M; Yoshioka, A | 1 |
| Brusque, AM; Feksa, L; Mello, CF; Wajner, M; Wannmacher, CM | 1 |
| Hammen, HW; Ott, AC; Schadewaldt, P; Wendel, U | 1 |
| Edwards, AD; Felderhoff-Mueser, U; Greenwood, K; Joashi, U; Jouvet, P; Kozma, M; Mazarakis, ND; Mehmet, H; Pocock, JM; Rustin, P; Sarraf, C; Taylor, DL | 1 |
| Felber, S; Grissenauer, G; Konstantopoulou, V; Skladal, D; Sperl, W | 1 |
| Dutra-Filho, CS; Santos, CE; Souza, DO; Tasca, CI; Tavares, RG; Wajner, M | 1 |
| Bodner-Leidecker, A; Saudubray, JM; Schadewaldt, P; Wendel, U | 1 |
| Araújo, P; Dutra-Filho, CS; Furlanetto, V; Tallini, K; Vargas, CR; Wajner, M; Wannmacher, CM; Wassermann, GF; Wyse, AT | 1 |
| Bodner-Leidecker, A; Hammen, HW; Schadewaldt, P; Wendel, U | 1 |
| Chokchaichamnankit, D; Liammongkolkul, S; Srisomsap, C; Surarit, R; Suthatvoravut, U; Svasti, J; Wasant, P | 1 |
| Belet, U; Danaci, M; Incesu, L; Tasdemir, HA; Yazicioglu, AK | 1 |
| Baab, PJ; Collins, RM; Zielke, CL; Zielke, HR | 1 |
| Desgrès, J; Hubert, P; Jouvet, P; Jugie, M; Man, NK; Rabier, D; Saudubray, JM | 1 |
| Kelley, RI; Morton, DH; Puffenberger, EG; Robinson, DL; Strauss, KA | 1 |
| Kasten, R; Kraus, H; Stumpf, B | 1 |
| Claussen, U; Wendel, U | 1 |
| Bickel, H; Hammersen, G; Lutz, P; Schmidt, H; Wille, L | 2 |
| Guthrie, R; Naylor, EW | 1 |
| Bensch, KG; Herman, MM; Liao, CL | 1 |
| Baker, JE; Benson, PF; Fensom, AH | 1 |
| Bell, L; Chao, E; Milne, J | 1 |
| Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW | 1 |
| Cox, RP; Dancis, J; Hutzler, J | 1 |
| Cockburn, F; Darling, JA; Giles, MM; Grant, M; Harkness, RA; Turner, TL | 1 |
| Mandell, R; Shih, VE; Tanaka, K | 1 |
| Allen, RJ; Girz, JC; Noel, MB; Stanley, PB | 1 |
| Iinuma, K; Onuma, A; Saito, T; Takamatsu, N; Wada, Y | 1 |
| Molden, DP; Seegmiller, JE; Skaper, SD | 1 |
| Hyánek, J; Kaspárková, Z; Macek, M; Mrskos, A; Pospísil, R; Santavá, A; Santavý, J; Slouková, M; Zwinger, A | 1 |
| Chemke, J; Levin, S | 1 |
| Hajduković, R; Marjanović, B; Stojanović, Lj; Vilhar, N; Vulović, D | 1 |
| Rüdiger, HW; Wendel, U; Wentrup, H | 1 |
| Perlman, M; Russell, A; Shina, A; Statter, M | 1 |
| Miller, JB; Qu, Y; Shapira, E; Slocum, RH | 1 |
| Fukushima, N; Ishikawa, A; Miyasaka, K; Okayasu, T; Takase, A; Wagatsuma, Y | 1 |
| Francis, DE; Halliday, D; Thompson, GN | 1 |
| Berlin, JA; Berry, GT; Field, M; Heidenreich, R; Kaplan, P; Mazur, A; Segal, S; Yudkoff, M | 1 |
| Dalle-Feste, C; Hammen, HW; Schadewaldt, P; Wendel, U | 1 |
| Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M | 1 |
| Bonnefont, JP; Bresson, JL; Halliday, D; Leonard, JV; Pacy, PJ; Saudubray, JM; Thompson, GN; Walter, JH | 1 |
| Halliday, D; Leonard, JV; Thompson, GN; Walter, JH | 1 |
| Guthrie, R; Jinks, DC; Vollmer, DW | 1 |
| Berger, H; Simma, B; Sperl, W | 1 |
| Beck, K; Schadewaldt, P; Wendel, U | 1 |
| Nyhan, WL; Sweetman, L; Yoshida, I | 1 |
| Akaboshi, I; Endo, F; Indo, Y; Matsuda, I; Nobukuni, Y | 1 |
| Boroujerdi, MA; Collins, JE; Leonard, JV; Sonksen, PH; Umpleby, AM | 1 |
| Houstková, H; Hyánek, J; Konecná, L; Pehal, F; Plavka, R; Rubín, A; Verner, P; Wendel, U; Zapadlo, M; Zeman, J | 1 |
| Funayama, CA; Moura-Ribeiro, MV | 1 |
| Nyhan, WL; Sweetman, L; Søvik, O; Yoshida, I | 1 |
| Bier, DM; Danner, DJ; Dembure, PP; Elsas, LJ; Fernhoff, PM; Hillman, R; Lubitz, D; Schwartz, HP | 1 |
| Sansaricq, C; Snyderman, SE | 1 |
| Amédée-Manesme, O; Frézal, J; Heuertz, S; Mitchell, G; Rey, F; Rey, J; Saudubray, JM | 1 |
| Cottom, D; Sallan, SE | 1 |
| Blum, KU | 1 |
| Royer, P | 1 |
| Elsas, LJ; Pask, BA; Perl, DP; Truster, S; Wheeler, FB | 1 |
| Blume, KG; Goedde, HW; Lang, K; Möhlenbeck, F; Rotthauwe, HW; Simon, HA | 1 |
| Patel, MS | 1 |
| Perrone, L | 1 |
| Levy, HL | 1 |
| Rüdiger, H; Schuchmann, L; Schulz, P; Schumacher, H; Witt, I | 1 |
| McKnight, MT; Spence, MW | 1 |
| Cox, RP; Dancis, J; Hill, A; Hutzler, J; Zaleski, LA; Zaleski, WA | 1 |
| Machill, G | 1 |
| Gaull, G; Hutterer, F; Roboz, J; Sternowsky, HJ | 1 |
| Koepp, P; Rüdiger, HW; Rybak, C; Wendel, U | 1 |
| Angielski, SA; Lysiak, W; Pieńkowska-Vogel, M; Szutowicz, A | 1 |
| Danner, DJ; Elsas, LJ; Pask, BA; Priest, JH; Wheeler, FB | 1 |
| Bensch, KG; Bissell, MG; Herman, MM | 1 |
| Gatti, R; Grossi-Bianchi, ML; Marchi, AG | 1 |
| Carson, NA | 1 |
| Arjundas, G; Chamukuttan, S; Gajanan, N; Kalyanaraman, K; Ramamurthi, B | 1 |
| Hagberg, B; Hambraeus, L; Westphal, O | 1 |
| Allen, RJ; Fleming, LM; Frey, HJ; Owings, CL | 1 |
| Cox, RP; Dancis, J; Hutzler, J; Snyderman, SE | 1 |
| Rey, F; Rey, J; Sivy, M | 1 |
| Hsia, DY; Justice, P; Smith, GF; Wong, PW | 1 |
| Bickel, H; Feist, D; Lutz, P; Müller, H | 1 |
| Smith, BA; Waisman, HA | 1 |
| van der Horst, JL; Wadman, SK | 1 |
| Fischer, MH; Gerritsen, T | 1 |
| Goluboff, N; Irwin, WC; Martel, SB | 1 |
| Kennedy, JL; Lustberg, TJ; Museles, M; Schulman, JD; Seegmiller, JE | 1 |
| Antener, I; Mainardi, PC | 1 |
| Hagge, W; Irtel von Brenndorff, A | 1 |
| Angielski, S; Lysiak, W; Stepiński, J | 1 |
| Biserte, G; Dautrevaux, M; Farriaux, JP; Fontaine, G | 1 |
| Clotten, R; Noetzel, H; Sander, C; Wehinger, H | 1 |
| Berger, R; Broyer, M | 1 |
| Blume, KG; Goedde, HW | 1 |
| Kolendrianos, ET; Schwartz, JF | 1 |
| Silberberg, DH | 1 |
| Dickinson, JP; Holton, JB; Lewis, GM; Littlewood, JM; Steel, AE | 1 |
| Linneweh, F; Solcher, H | 1 |
| Milstein, JM; Swaiman, KF | 1 |
| Beneke, G; Peiffer, J; Platt, D; Schmidt, GW | 1 |
12 review(s) available for leucine and BCKD Deficiency
| Article | Year |
|---|---|
Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids.
Topics: Amino Acids; Amino Acids, Branched-Chain; Animals; Humans; Keto Acids; Leucine; Maple Syrup Urine Disease; Neurotoxicity Syndromes | 2022 |
Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Topics: Amino Acids, Branched-Chain; Diet; Humans; Leucine; Liver Transplantation; Maple Syrup Urine Disease | 2023 |
Branched-Chain Amino Acids and Brain Metabolism.
Topics: Amino Acids, Branched-Chain; Animals; Brain; Humans; Leucine; Maple Syrup Urine Disease; Signal Transduction; Transaminases; Valine | 2017 |
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
Topics: Adult; Amino Acids, Branched-Chain; Cesarean Section; Diet; Diet, Protein-Restricted; Female; Humans; Lactation; Leucine; Maple Syrup Urine Disease; Postpartum Period; Pregnancy; Pregnancy Complications; Pregnancy Outcome | 2018 |
[Anaesthesia in patients with maple syrup urine disease. Case report and perioperative anaesthetic management].
Topics: Adult; Anesthesia; Humans; Hypoglycemia; Leucine; Male; Maple Syrup Urine Disease; Nervous System Diseases; Perioperative Care | 2010 |
[MAPLE SYRUP URINE DISEASE].
Topics: Blood Chemical Analysis; Body Fluids; Chemical Phenomena; Chemistry; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Urine; Valine | 1963 |
AMINOACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis; Glycine; Humans; Kidney; Leucine; Maple Syrup Urine Disease; Phenylketonurias; Renal Aminoacidurias; Tyrosine; Valine | 1965 |
Brain amino acid requirements and toxicity: the example of leucine.
Topics: Adult; Amino Acids, Branched-Chain; Animals; Brain; Glutamic Acid; Humans; Leucine; Maple Syrup Urine Disease; Nutritional Requirements | 2005 |
Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Biomarkers; Diet; Humans; Infant; Infant, Newborn; Leucine; Liver Transplantation; Maple Syrup Urine Disease | 2005 |
Metabolism of branched-chain amino acids in maple syrup urine disease.
Topics: Amino Acids, Branched-Chain; Humans; Isotope Labeling; Leucine; Maple Syrup Urine Disease; Oxidation-Reduction; Severity of Illness Index | 1997 |
Neonatal screening for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1974 |
[A case of maple syrup disease. Clinical and electroencephalographic observations with dietetic experiment. Critical review of literature].
Topics: Diet; Electroencephalography; Female; Humans; Infant; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1967 |
5 trial(s) available for leucine and BCKD Deficiency
| Article | Year |
|---|---|
Classical maple syrup urine disease and brain development: principles of management and formula design.
Topics: Amino Acids; Brain; Child, Preschool; Food, Formulated; Hospitalization; Humans; Infant; Leucine; Maple Syrup Urine Disease; Nutritional Requirements | 2010 |
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.
Topics: Child; Cognition Disorders; Female; Humans; Intelligence Tests; Leucine; Male; Maple Syrup Urine Disease | 2006 |
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.
Topics: Acute Disease; Amino Acids, Branched-Chain; Extracorporeal Circulation; Female; Hemodiafiltration; Hemofiltration; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease | 1997 |
Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study.
Topics: Acute Disease; Adolescent; Child; Child, Preschool; Electrolytes; Female; Glucose; Health Care Surveys; Humans; Leucine; Male; Maple Syrup Urine Disease; Nervous System Diseases; Nutritional Support; Outcome Assessment, Health Care; Peritoneal Dialysis; Prognosis; Thiamine | 1999 |
Thiamine response in maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Child; Child, Preschool; Clinical Trials as Topic; Female; Fibroblasts; Humans; Infant; Keto Acids; Ketone Oxidoreductases; Kidney Tubules; Leucine; Male; Maple Syrup Urine Disease; Monocytes; Multienzyme Complexes; Thiamine | 1985 |
219 other study(ies) available for leucine and BCKD Deficiency
| Article | Year |
|---|---|
Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.
Topics: Aged; Ammonia; Child; Continuous Renal Replacement Therapy; Hemodiafiltration; Humans; Hypotension; Infant; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Metabolism, Inborn Errors; Renal Dialysis | 2022 |
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination
Topics: Amino Acids, Branched-Chain; Child, Preschool; Congenital Hyperinsulinism; Humans; Infant; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Mutation | 2023 |
Continuous veno-venous hemodiafiltration in neonates with maple syrup urine disease.
Topics: Acute Kidney Injury; Continuous Renal Replacement Therapy; Female; Hemodiafiltration; Humans; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Retrospective Studies | 2022 |
Exposure to leucine induces oxidative stress in the brain of zebrafish.
Topics: Animals; Antioxidants; Brain; Leucine; Maple Syrup Urine Disease; Oxidative Stress; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances; Zebrafish | 2022 |
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
Topics: Adult; Amino Acids, Branched-Chain; Child; Female; Humans; Infusions, Intravenous; Leucine; Male; Maple Syrup Urine Disease; Prospective Studies | 2022 |
Exposure to leucine alters glutamate levels and leads to memory and social impairment in zebrafish.
Topics: Amino Acids, Branched-Chain; Animals; Glutamic Acid; Leucine; Maple Syrup Urine Disease; Zebrafish | 2022 |
Quantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).
Topics: Amino Acids; Amino Acids, Branched-Chain; Chromatography, High Pressure Liquid; Chromatography, Liquid; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methanol; Nitrogen Isotopes; Oxidoreductases; Tandem Mass Spectrometry; Valine | 2022 |
Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis.
Topics: Amino Acids, Branched-Chain; Body Weight; Child; Child, Preschool; Diet; Humans; Infant; Infant, Newborn; Leucine; Maple Syrup Urine Disease | 2023 |
Melatonin improves behavioral parameters and oxidative stress in zebrafish submitted to a leucine-induced MSUD protocol.
Topics: Amino Acids, Branched-Chain; Animals; Antioxidants; Leucine; Maple Syrup Urine Disease; Melatonin; Oxidative Stress; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances; Zebrafish | 2023 |
Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Child; Child, Preschool; Constriction, Pathologic; Humans; Infant; Leucine; Living Donors; Maple Syrup Urine Disease; Valine | 2023 |
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Topics: China; Early Diagnosis; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Neonatal Screening | 2023 |
Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates.
Topics: Amino Acids, Branched-Chain; Animals; Enzyme Therapy; Humans; Leucine; Maple Syrup Urine Disease; Mice; Primates; Proteins | 2023 |
Acute exposure to leucine modifies behavioral parameters and cholinergic activity in zebrafish.
Topics: Acetylcholinesterase; Animals; Behavior, Animal; Brain; Choline O-Acetyltransferase; Disease Models, Animal; Leucine; Maple Syrup Urine Disease; Zebrafish | 2019 |
Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease.
Topics: Amino Acids, Branched-Chain; Dermatitis; Female; Humans; Infant; Leucine; Malnutrition; Maple Syrup Urine Disease; Skin | 2019 |
Teaching NeuroImages: When MRI is a clue in episodic ataxia.
Topics: Amino Acids, Branched-Chain; Ataxia; Brain; Child, Preschool; Female; Humans; Leucine; Magnetic Resonance Imaging; Maple Syrup Urine Disease; Valine | 2019 |
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Adolescent; Adult; Amino Acids, Branched-Chain; Biomarkers; Child; Child, Preschool; Cognitive Dysfunction; Cohort Studies; Diet; Female; Homozygote; Humans; Infant; Leucine; Liver Transplantation; Male; Maple Syrup Urine Disease; Mental Disorders; Middle Aged; Phenotype | 2020 |
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Topics: Alleles; Child; Child, Preschool; DNA Mutational Analysis; Female; Frameshift Mutation; Genetic Association Studies; Homozygote; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Molecular Biology; Mutation, Missense; Patient Readmission; Phenotype; Pyruvate Decarboxylase; Tandem Mass Spectrometry | 2020 |
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
Topics: Adolescent; Child; Child, Preschool; Diet, Protein-Restricted; Dried Blood Spot Testing; Early Diagnosis; Female; Genotype; Humans; Infant; Infant, Newborn; Ireland; Leucine; Male; Maple Syrup Urine Disease; Neonatal Screening; Phenotype; Retrospective Studies | 2021 |
Maple syrup urine disease associated with nephrotic syndrome in a Filipino child.
Topics: Child; Diet; Dietary Proteins; Female; Humans; Infant; Leucine; Maple Syrup Urine Disease; Nephrotic Syndrome | 2021 |
Neurocognitive profiles in MSUD school-age patients.
Topics: Amino Acids, Branched-Chain; Child; Cognition; Early Diagnosis; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Retrospective Studies; Schools; Valine | 2017 |
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
Topics: Adolescent; Adult; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Humans; Leucine; Male; Maple Syrup Urine Disease; Middle Aged; Rare Diseases; Retrospective Studies; Young Adult | 2017 |
Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.
Topics: Acidosis; Adolescent; Child; Child, Preschool; Diet; Female; Humans; Infant; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Retrospective Studies; Treatment Outcome | 2017 |
Liver transplantation for classical maple syrup urine disease: long-term follow-up.
Topics: Brain; Child, Preschool; Female; Follow-Up Studies; Graft Survival; Humans; Infant; Isoleucine; Leucine; Liver Transplantation; Male; Maple Syrup Urine Disease; Quality of Life; Survivors; Treatment Outcome | 2014 |
Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro.
Topics: Carnitine; Comet Assay; DNA Damage; Energy Metabolism; Humans; Keto Acids; Leucine; Leukocytes; Maple Syrup Urine Disease; Oxidative Stress; Vitamin B Complex | 2014 |
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
Topics: Brain Diseases; Chromatography, Ion Exchange; Delayed Diagnosis; Developmental Disabilities; Early Diagnosis; Female; Genetic Association Studies; Humans; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Neonatal Screening; Polymerase Chain Reaction; Prognosis; Quality of Life; Rare Diseases; Spain; Tandem Mass Spectrometry | 2015 |
Living related versus deceased donor liver transplantation for maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Adult; Brazil; Child; Child, Preschool; Diet; Female; Follow-Up Studies; Heterozygote; Humans; Isoleucine; Leucine; Liver Transplantation; Living Donors; Male; Maple Syrup Urine Disease; Oxidation-Reduction; Sequence Analysis, DNA; Tissue Donors; Treatment Outcome; Valine | 2016 |
A Whole-Cell Surface Plasmon Resonance Sensor Based on a Leucine Auxotroph of Escherichia coli Displaying a Gold-Binding Protein: Usefulness for Diagnosis of Maple Syrup Urine Disease.
Topics: Escherichia coli; Gold; Leucine; Maple Syrup Urine Disease; Surface Plasmon Resonance | 2016 |
Living donor liver transplantation in maple syrup urine disease - Case series and world's youngest domino liver donor and recipient.
Topics: Allografts; Child, Preschool; Diet, Protein-Restricted; Female; Heterozygote; Humans; Infant; Intraoperative Period; Isoleucine; Leucine; Liver; Liver Cirrhosis, Biliary; Liver Transplantation; Living Donors; Male; Maple Syrup Urine Disease; Perfusion; Postoperative Period; Preoperative Period; Risk; Transplant Recipients; Treatment Outcome; Valine | 2016 |
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD.
Topics: Amino Acids, Branched-Chain; Animals; Chromatography, Liquid; Disease Models, Animal; Female; Fibroblasts; Homeostasis; Homozygote; Keto Acids; Ketoglutaric Acids; Ketosis; Leucine; Male; Maple Syrup Urine Disease; Mass Spectrometry; Metformin; Mice; Muscle Fibers, Skeletal; Muscle, Skeletal; Mutation | 2016 |
Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
Topics: Alleles; Chromatography, Thin Layer; Diagnosis, Differential; DNA; Gene Deletion; Humans; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Mutation; Polymerase Chain Reaction; Protein Kinases; Reproducibility of Results; Time Factors; Valine | 2008 |
Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.
Topics: Adolescent; Biomarkers; Electromyography; Female; Humans; Leucine; Maple Syrup Urine Disease; Mitochondrial Diseases; Neural Conduction; Neurologic Examination; Peripheral Nerves; Polyneuropathies; Psychomotor Performance; Recurrence; Time Factors | 2008 |
Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.
Topics: Asian People; Biomarkers; Chromatography, Thin Layer; Early Diagnosis; Female; Humans; Infant; Infant, Newborn; Isoleucine; Ketones; Leucine; Male; Maple Syrup Urine Disease; Neonatal Screening; Peritoneal Dialysis; Phenotype; Philippines; Predictive Value of Tests; Retrospective Studies; Time Factors; Treatment Outcome | 2008 |
Development of micellar electro kinetic chromatography for the separation and quantitation of L-valine, L-leucine, L-isoleucin and L-phenylalanine in human plasma and comparison with HPLC.
Topics: Chromatography, High Pressure Liquid; Chromatography, Micellar Electrokinetic Capillary; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Plasma; Reproducibility of Results; Valine | 2007 |
Amino acids levels and lipid peroxidation in maple syrup urine disease patients.
Topics: Adult; Amino Acids; Antioxidants; Humans; Hydroxy Acids; Isoleucine; Keto Acids; Leucine; Lipid Peroxidation; Maple Syrup Urine Disease; Methionine; Oxidative Stress; Thiobarbituric Acid Reactive Substances; Tryptophan; Valine | 2009 |
The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease.
Topics: Acidosis; Ammonia; Brain; Child, Preschool; Consanguinity; Female; Glutamates; Humans; Infant, Newborn; Leucine; Magnetic Resonance Imaging; Maple Syrup Urine Disease | 2009 |
Alpha-ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain.
Topics: Animals; Brain; Central Nervous System Agents; Electron Transport; Homeostasis; Keto Acids; Ketoglutarate Dehydrogenase Complex; Leucine; Maple Syrup Urine Disease; Membrane Potential, Mitochondrial; Mitochondrial Diseases; Mitochondrial Swelling; NADP; Oxygen Consumption; Prosencephalon; Rats; Rats, Wistar; Valerates | 2010 |
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
Topics: Amino Acids, Branched-Chain; Child; Child, Preschool; Diet, Protein-Restricted; Humans; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Neonatal Screening; Tandem Mass Spectrometry | 2010 |
Continuous venovenous hemofiltration rapidly lowers toxic metabolites in a patient with MSUD and imminent cerebral herniation.
Topics: Amino Acids, Branched-Chain; Brain Edema; Child; Encephalocele; Hemofiltration; Humans; Leucine; Male; Maple Syrup Urine Disease; Tomography, X-Ray Computed | 2010 |
Direct analysis of dried blood spots by in-line desorption combined with high-resolution chromatography and mass spectrometry for quantification of maple syrup urine disease biomarkers leucine and isoleucine.
Topics: Biomarkers; Chromatography, Liquid; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Reference Standards; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2011 |
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Apoptosis; Blotting, Western; Cell Survival; DNA Mutational Analysis; Female; Fibroblasts; Gene Frequency; Genotype; Humans; Infant; Isoleucine; Leucine; Maple Syrup Urine Disease; Microscopy, Fluorescence; Mutation; Phenotype; Phosphoprotein Phosphatases; Protein Phosphatase 2C; Pyruvate Dehydrogenase Complex; Reactive Oxygen Species; Sequence Analysis, DNA; Skin | 2013 |
Effect of leucine administration to female rats during pregnancy and lactation on oxidative stress and enzymes activities of phosphoryltransfer network in cerebral cortex and hippocampus of the offspring.
Topics: Animals; Antioxidants; Cerebral Cortex; Creatine; Female; Hippocampus; Lactation; Leucine; Male; Maple Syrup Urine Disease; Oxidative Stress; Phosphotransferases; Pregnancy; Prenatal Exposure Delayed Effects; Pyruvic Acid; Rats; Rats, Wistar | 2013 |
[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
Topics: Adolescent; Adult; Amino Acids, Branched-Chain; Child; Child, Preschool; Early Diagnosis; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Tandem Mass Spectrometry; Valine; Young Adult | 2012 |
Disturbance of cultured rat neuronal network activity depends on concentration and ratio of leucine and alpha-ketoisocaproate: implication for acute encephalopathy of maple syrup urine disease.
Topics: Animals; Cells, Cultured; Culture Media; Dose-Response Relationship, Drug; Electrophysiology; Keto Acids; Leucine; Maple Syrup Urine Disease; Membrane Potentials; Neocortex; Nerve Net; Neurons; Patch-Clamp Techniques; Potassium Channels, Voltage-Gated; Rats | 2003 |
Kinetic studies on the inhibition of creatine kinase activity by branched-chain alpha-amino acids in the brain cortex of rats.
Topics: Amino Acids; Amino Acids, Branched-Chain; Animals; Cerebral Cortex; Creatine Kinase; Enzyme Activation; Isoleucine; Keto Acids; Kinetics; Leucine; Maple Syrup Urine Disease; Rats; Rats, Wistar; Reference Values; Valine | 2003 |
Creatine kinase activity from rat brain is inhibited by branched-chain amino acids in vitro.
Topics: Amino Acids, Branched-Chain; Animals; Brain; Creatine Kinase; Energy Metabolism; Isoleucine; Kinetics; Leucine; Maple Syrup Urine Disease; Rats; Valine | 2003 |
Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry.
Topics: Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine; Reproducibility of Results; Valine | 2003 |
Induction of oxidative stress in rat brain by the metabolites accumulating in maple syrup urine disease.
Topics: Amino Acids; Animals; Animals, Newborn; Antioxidants; Cerebral Cortex; Culture Techniques; Dose-Response Relationship, Drug; Free Radicals; Isoleucine; Leucine; Lipid Peroxidation; Male; Maple Syrup Urine Disease; Oxidative Stress; Rats; Rats, Wistar; Valine | 2003 |
Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.
Topics: Biochemical Phenomena; Child; Humans; Infant; Intellectual Disability; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Valine | 1959 |
Maple syrup urine disease.
Topics: Biochemical Phenomena; Child; Humans; Infant; Intellectual Disability; Leucine; Maple Syrup Urine Disease; Metabolic Diseases | 1959 |
Maple syrup urine disease.
Topics: Biochemical Phenomena; Body Fluids; Humans; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Urine; Valine | 1961 |
Studies in maple syrup urine disease.
Topics: Child; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Valine | 1961 |
Maple syrup urine disease.
Topics: Child; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Valine | 1961 |
Inhibition of brain glutamic acid decarboxylase by phenylalanine, valine, and leucine derivatives: a suggestion concerning the etiology of the neurological defect in phenylketonuria and branched-chain ketonuria.
Topics: Amino Acids; Brain; Glutamate Decarboxylase; Humans; Intellectual Disability; Ketosis; Leucine; Lyases; Maple Syrup Urine Disease; Metabolic Diseases; Phenylalanine; Phenylketonurias; Valine | 1961 |
[Maple syrup urine disease].
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Leucine; Maple Syrup Urine Disease; Valine | 1962 |
THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE.
Topics: Chromatography; Humans; In Vitro Techniques; Isoleucine; Keto Acids; Ketosis; Leucine; Leukocytes; Maple Syrup Urine Disease; Metabolism; Research; Valine | 1963 |
MAPLE SYRUP URINE DISEASE. REPORT OF TWO CASES.
Topics: Clinical Laboratory Techniques; Diet; Diet Therapy; Gelatin; Genetics, Medical; Humans; Infant; Laboratories; Leucine; Maple Syrup Urine Disease | 1963 |
DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA).
Topics: Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1963 |
THE METABOLISM OF LEUCINE IN TISSUE CULTURE OF SKIN FIBROBLASTS OF MAPLE-SYRUP-URINE DISEASE.
Topics: Acer; Carbon Isotopes; Carboxy-Lyases; Clinical Enzyme Tests; Connective Tissue; Fibroblasts; Humans; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Proteins; Skin; Tissue Culture Techniques | 1963 |
[ANOTHER HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE].
Topics: Blood; Carbon Isotopes; Genetics, Medical; Heterozygote; Humans; Leucine; Maple Syrup Urine Disease | 1963 |
THE EXCHANGE OF 14CO2 WITH BRANCHED-CHAIN KETOACIDS BY GUINEA-PIG LIVER.
Topics: Carbon Dioxide; Carbon Isotopes; Digestion; Guinea Pigs; Isoleucine; Keto Acids; Leucine; Liver; Maple Syrup Urine Disease; Metabolism; Research; Valine | 1963 |
MAPLE SYRUP URINE DISEASE.
Topics: Blood Chemical Analysis; Chromatography; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolism; Physiology; Valine | 1964 |
[CLINICAL, BIOCHEMICAL, AND NEUROPATHOLOGIC ASPECTS OF MAPLE SYRUP URINE DISEASE. A KETOACIDURIA OF THE OPEN CHAIN AMINOACIDS LEUCINE, ISOLEUCINE AND VALINE].
Topics: Amino Acids; Genetics, Medical; Humans; Infant; Isoleucine; Keto Acids; Ketosis; Leucine; Maple Syrup Urine Disease; Nervous System Diseases; Neurosciences; Pathology; Valine | 1963 |
MAPLE SYRUP URINE DISEASE.
Topics: Amino Acids; Blood Chemical Analysis; Body Fluids; Cerebrospinal Fluid; Chromatography; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Urine; Valine | 1964 |
MAPLE SYRUP URINE DISEASE: A MANIFESTATION OF AN UNUSUAL METABOLIC ERROR.
Topics: Child; Genetics, Medical; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolism; Proteins; Valine | 1964 |
LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).
Topics: Amino Acid Metabolism, Inborn Errors; Blood Proteins; Child; Chromatography; Cystine; Histidine; Humans; Infant; Isoleucine; Kidney; Leucine; Maple Syrup Urine Disease; Pathology; Renal Aminoacidurias; Valine | 1964 |
MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY.
Topics: Amino Acid Metabolism, Inborn Errors; Anthropometry; Blood Proteins; Cerebrospinal Fluid Proteins; Diet; Diet Therapy; Erythrocytes; Exchange Transfusion, Whole Blood; Growth; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Valine | 1964 |
MAPLE-SYRUP-URINE DISEASE. REPORT OF A CASE, WITH A PEDIGREE.
Topics: Acer; Body Fluids; Chromatography; Diet; Diet Therapy; Gelatin; Genetics, Medical; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Pedigree; Urine; Valine | 1964 |
FAMILY SCREENING STUDIES IN MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA).
Topics: Blood; Chromatography; Diagnosis; Genetics, Medical; Humans; Ketoglutaric Acids; Leucine; Maple Syrup Urine Disease; Research; Urine | 1965 |
[Maple syrup urine disease].
Topics: Biochemical Phenomena; Body Fluids; Humans; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Valine | 1961 |
A new finding in maple-syrup-urine disease.
Topics: Acer; Child; Humans; Infant; Intellectual Disability; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine | 1962 |
Leucine toxicity in a neuronal cell model with inhibited branched chain amino acid catabolism.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Animals; Apoptosis; Cell Survival; Doxycycline; Leucine; Maple Syrup Urine Disease; Mitochondria; Models, Biological; Nerve Degeneration; Neurons; PC12 Cells; Proteins; Rats; Reaction Time; RNA, Messenger; Transgenes | 2004 |
Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.
Topics: Acute Disease; Amino Acids; Child; Hemodiafiltration; Humans; Leucine; Male; Maple Syrup Urine Disease; Time Factors | 2004 |
Evaluation of the mechanisms involved in leucine-induced oxidative damage in cerebral cortex of young rats.
Topics: Animals; Antioxidants; Brain; Catalase; Cerebral Cortex; Chromans; Disease Models, Animal; Enzyme Inhibitors; Fluoresceins; Free Radicals; Glutathione; Glutathione Peroxidase; Humans; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Mitochondria; Neurons; NG-Nitroarginine Methyl Ester; Oxidative Stress; Oxygen; Rats; Rats, Wistar; Reactive Oxygen Species; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances; Valine | 2005 |
Kinetic modeling of plasma leucine levels during continuous venovenous extracorporeal removal therapy in neonates with maple syrup urine disease.
Topics: Body Water; Body Weight; Extracorporeal Circulation; Hemofiltration; Humans; Infant, Newborn; Kinetics; Leucine; Maple Syrup Urine Disease; Retrospective Studies; Time Factors; Water | 2005 |
A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD).
Topics: Adolescent; Adult; Amino Acids; Body Weight; Diet; Diet, Protein-Restricted; Dietary Proteins; Female; Food, Formulated; Humans; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Valine | 2005 |
[Neonatal leucinosis with favourable course. Therapeutic problems].
Topics: Acidosis; Child, Preschool; Diagnosis, Differential; Follow-Up Studies; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Neurologic Examination; Peritoneal Dialysis; Seizures; Valine | 1977 |
An 11-day-old boy with lethargy, poor feeding, vomiting. Maple syrup urine disease.
Topics: Amino Acids; Diagnosis, Differential; Feeding and Eating Disorders; Humans; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Sleep Stages; Valine; Vomiting | 2005 |
Elective liver transplantation for the treatment of classical maple syrup urine disease.
Topics: Adolescent; Adult; Child; Child, Preschool; Elective Surgical Procedures; Female; Follow-Up Studies; Humans; Infant; Leucine; Liver Transplantation; Maple Syrup Urine Disease; Time Factors; Treatment Outcome | 2006 |
Duration of extracorporeal therapy in acute maple syrup urine disease: a kinetic model.
Topics: Acute Disease; Adolescent; Age Factors; Child; Child, Preschool; Female; Humans; Infant; Intensive Care Units, Pediatric; Leucine; Male; Maple Syrup Urine Disease; Models, Biological; Renal Dialysis; Retrospective Studies; Time Factors | 2006 |
Domino liver transplantation in maple syrup urine disease.
Topics: Adult; Carbon Dioxide; Female; Humans; Leucine; Liver Transplantation; Living Donors; Male; Maple Syrup Urine Disease; Middle Aged; Oxidation-Reduction | 2006 |
Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.
Topics: Amino Acids, Branched-Chain; Austria; Early Diagnosis; Germany; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Neonatal Screening; Retrospective Studies; Time Factors; Treatment Outcome | 2006 |
Newborn screening may fail to identify intermediate forms of maple syrup urine disease.
Topics: Alanine; False Negative Reactions; Female; Humans; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Neonatal Screening; Phenylalanine; Tandem Mass Spectrometry | 2006 |
Erythrocyte glutathione peroxidase activity and plasma selenium concentration are reduced in maple syrup urine disease patients during treatment.
Topics: Catalase; Child; Child, Preschool; Erythrocytes; Female; Glutathione Peroxidase; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Selenium; Superoxide Dismutase; Valine | 2007 |
[Compliance of the diet restricted with leucine, isoleucine and valine in maple syrup urine disease (MSUD) children].
Topics: Adolescent; Calcium; Child; Child, Preschool; Copper; Diet Records; Dietary Proteins; Energy Intake; Female; Humans; Infant; Iron Deficiencies; Isoleucine; Leucine; Longitudinal Studies; Male; Maple Syrup Urine Disease; Nutritional Requirements; Patient Compliance; Valine; Vitamins; Zinc | 2007 |
Oxidative stress in plasma from maple syrup urine disease patients during treatment.
Topics: Amino Acids; Antioxidants; Female; Humans; Indicators and Reagents; Infant; Infant, Newborn; Leucine; Lipid Peroxidation; Male; Maple Syrup Urine Disease; Nerve Tissue Proteins; Oxidative Stress; Thiobarbituric Acid Reactive Substances | 2008 |
Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease.
Topics: Adult; Carbon Dioxide; Carbon Isotopes; Carboxy-Lyases; Child; Child, Preschool; Chromatography; Female; Humans; Infant; Leucine; Male; Maple Syrup Urine Disease; Valine | 1967 |
The therapy of maple syrup urine disease.
Topics: Child; Child, Preschool; Diet Therapy; Female; Growth; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Methionine; Neurologic Manifestations; Valine | 1967 |
Hypoglycemia in maple syrup urine disease.
Topics: Animals; Caseins; Female; Gluconeogenesis; Glucose; Glucose Tolerance Test; Glycogen; Humans; Hyperinsulinism; Hypoglycemia; In Vitro Techniques; Infant; Leucine; Male; Maple Syrup Urine Disease; Rats | 1967 |
Changes in the amino acid composition of proteolipids of white matter during maturation of the human nervous system.
Topics: Adult; Aged; Amino Acids; Aspartic Acid; Central Nervous System; Child; Frontal Lobe; Humans; Infant; Infant, Newborn; Leucine; Lipoproteins; Maple Syrup Urine Disease; Phenylalanine; Proline; Tyrosine | 1967 |
Experiments of nature involving branch-chain amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant; Leucine; Maple Syrup Urine Disease; Transaminases; Valine | 1967 |
Maple syrup urine disease in an infant with microgyria.
Topics: Brain; Cerebral Cortex; Chromatography, Paper; Epilepsy; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Pons; Spasm; Thalamus; Valine | 1967 |
The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.
Topics: Amino Acids, Essential; Child; Child, Preschool; Dietary Proteins; Female; Humans; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Nutritional Requirements; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tyrosine; Tyrosine Transaminase; Valine | 1980 |
[Acrodermatitis enteropathica and leucinosis. 2d case].
Topics: Acrodermatitis; Humans; Infant; Leucine; Malabsorption Syndromes; Male; Maple Syrup Urine Disease; Zinc | 1983 |
Myelin proteins: degradation in rat brain initiated by metabolites causative of maple syrup urine disease.
Topics: Animals; Brain; Caproates; Electrophoresis, Polyacrylamide Gel; Humans; Keto Acids; Kinetics; Leucine; Lysine; Maple Syrup Urine Disease; Myelin Proteins; Rats; Rats, Inbred Strains; Tritium | 1983 |
Intracellular levels and metabolism of leucine and alpha-ketoisocaproate in normal and maple syrup urine disease fibroblasts.
Topics: Amino Acids, Branched-Chain; Cells, Cultured; Decarboxylation; Fibroblasts; Humans; Keto Acids; Leucine; Maple Syrup Urine Disease; Skin | 1984 |
The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease.
Topics: Amino Acids, Branched-Chain; Caproates; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Infant, Newborn; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Valerates; Valine | 1984 |
[3 patients with maple syrup urine disease].
Topics: Amino Acids, Branched-Chain; Cells, Cultured; Fibroblasts; Humans; Infant; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Thiamine | 1983 |
Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Cell Division; Cell Line; Culture Media; Humans; Isoleucine; Ketone Oxidoreductases; Leucine; Lymphocytes; Maple Syrup Urine Disease; Multienzyme Complexes; Substrate Specificity; Valine | 1984 |
Maple-syrup-urine disease.
Topics: False Negative Reactions; Female; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease | 1984 |
Maple syrup urine disease--therapeutic use of insulin in catabolic states.
Topics: Glucose; Humans; Infant; Infant, Newborn; Insulin; Leucine; Maple Syrup Urine Disease | 1982 |
[Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency].
Topics: Adolescent; Alleles; Carboxy-Lyases; Child; Child, Preschool; Dietary Proteins; Dihydrolipoamide Dehydrogenase; Female; Genetic Variation; Heterozygote; Humans; Leucine; Male; Maple Syrup Urine Disease | 1982 |
Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease.
Topics: Amino Acids; Child, Preschool; Dietary Proteins; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Milk, Human; Nutritional Requirements; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1982 |
Exchange transfusion in acute episodes of maple syrup urine disease. Studies on branched-chain amino and keto acids.
Topics: Amino Acids; Exchange Transfusion, Whole Blood; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Keto Acids; Leucine; Maple Syrup Urine Disease; Time Factors | 1982 |
Prospective study of maple-syrup-urine disease for the first four days of life.
Topics: Age Factors; Amino Acids, Branched-Chain; Female; Fetal Blood; Food, Formulated; Humans; Infant Food; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Valine | 1982 |
Blood and tissue branched-chain amino and alpha-keto acid concentrations: effect of diet, starvation, and disease.
Topics: Amino Acids, Branched-Chain; Animals; Diabetes Mellitus, Experimental; Diet; Hemiterpenes; Humans; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Rats; Starvation; Valine | 1981 |
Maple syrup urine disease: alpha-ketoisocaproate decarboxylation activity in different types of cultured amniotic fluid cells.
Topics: Amniotic Fluid; Cells, Cultured; Decarboxylation; Epithelium; Female; Fibroblasts; Humans; Keto Acids; Leucine; Maple Syrup Urine Disease; Pregnancy | 1981 |
Peritoneal dialysis in maple-syrup-urine disease: studies on branched-chain amino and keto acids.
Topics: Amino Acids; Exchange Transfusion, Whole Blood; Female; Humans; Infant; Keto Acids; Leucine; Maple Syrup Urine Disease; Peritoneal Dialysis | 1980 |
Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism.
Topics: Child; Child, Preschool; Female; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease | 1980 |
Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.
Topics: Amino Acids; Dose-Response Relationship, Drug; Electroencephalography; gamma-Aminobutyric Acid; Glutamic Acid; Humans; Leucine; Maple Syrup Urine Disease | 1994 |
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.
Topics: False Positive Reactions; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Mass Spectrometry; Neonatal Screening; Paper; Phenylalanine; Reference Values; Sensitivity and Specificity; Valine | 1995 |
Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method.
Topics: Amino Acid Oxidoreductases; Amino Acids, Branched-Chain; Autoanalysis; Colorimetry; Enzymes; Humans; Indicators and Reagents; Infant, Newborn; Leucine; Leucine Dehydrogenase; Maple Syrup Urine Disease; Neonatal Screening | 1993 |
Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.
Topics: Acyltransferases; Alleles; Antigens; Base Sequence; Cells, Cultured; Child; Female; Gene Deletion; Genotype; Humans; Leucine; Maple Syrup Urine Disease; Molecular Sequence Data; Oxidation-Reduction; Pedigree; Phenotype; Point Mutation; Thiamine | 1993 |
Cerebral edema in maple syrup urine disease.
Topics: Adolescent; Brain Edema; Female; Humans; Leucine; Maple Syrup Urine Disease; Pseudotumor Cerebri | 1993 |
Dermatitis in treated maple syrup urine disease.
Topics: Dermatitis; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Recurrence | 1993 |
Intellectual performance of children with maple syrup urine disease.
Topics: Adolescent; Case-Control Studies; Child; Child, Preschool; Female; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Least-Squares Analysis; Leucine; Male; Maple Syrup Urine Disease; Phenylketonurias | 1993 |
Practical methods to estimate whole body leucine oxidation in maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Administration, Oral; Adult; Carbon Isotopes; Cells, Cultured; Child; Child, Preschool; Evaluation Studies as Topic; Female; Heterozygote; Homozygote; Humans; In Vitro Techniques; Ketone Oxidoreductases; Leucine; Male; Maple Syrup Urine Disease; Methods; Multienzyme Complexes; Oxidation-Reduction | 1993 |
Intermittent maple syrup disease.
Topics: Adolescent; Child; Female; Humans; Leucine; Male; Maple Syrup Urine Disease; Oxidation-Reduction | 1996 |
Microangiopathic hemolytic anemia, thrombocytopenia, and renal injury during continuous venovenous hemodialysis in a neonate.
Topics: Anemia, Hemolytic; Hemofiltration; Humans; Infant, Newborn; Kidney Diseases; Leucine; Male; Maple Syrup Urine Disease; Thrombocytopenia | 1995 |
Effect of alpha-ketoisocaproate and leucine on the in vivo oxidation of glutamate and glutamine in the rat brain.
Topics: Animals; Brain; Caproates; Glutamic Acid; Glutamine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Microdialysis; Oxidation-Reduction; Rats | 1997 |
Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography.
Topics: Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; False Positive Reactions; Genetic Testing; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Multivariate Analysis; New York; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
Pregnancy in a woman with maple syrup urine disease.
Topics: Adult; Animals; Female; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Pregnancy; Pregnancy Complications | 1998 |
Assessment of whole body L-leucine oxidation by noninvasive L-[1-13C]leucine breath tests: a reappraisal in patients with maple syrup urine disease, obligate heterozygotes, and healthy subjects.
Topics: Adolescent; Adult; Breath Tests; Caproates; Carbon Dioxide; Carbon Isotopes; Child; Female; Heterozygote; Humans; Keto Acids; Kinetics; Leucine; Male; Maple Syrup Urine Disease; Middle Aged; Oxidation-Reduction; Reference Values | 1998 |
Treatment of the acute crisis in maple syrup urine disease.
Topics: Acute Disease; Amino Acids; Child; Child, Preschool; Humans; Infant, Newborn; Infusions, Intravenous; Intubation, Gastrointestinal; Leucine; Male; Maple Syrup Urine Disease; Treatment Outcome | 1998 |
Chronic early leucine administration induces behavioral deficits in rats.
Topics: Animals; Avoidance Learning; Behavior, Animal; Body Weight; Chronic Disease; Disease Models, Animal; Exploratory Behavior; Female; Humans; Leucine; Male; Maple Syrup Urine Disease; Pregnancy; Rats; Rats, Wistar; Time Factors | 1999 |
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease.
Topics: Adolescent; Adult; Amino Acids, Branched-Chain; Child; Child, Preschool; Hemiterpenes; Humans; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Metabolic Clearance Rate; Middle Aged; Valine | 1999 |
Branched chain amino acids induce apoptosis in neural cells without mitochondrial membrane depolarization or cytochrome c release: implications for neurological impairment associated with maple syrup urine disease.
Topics: Amino Acids, Branched-Chain; Animals; Apoptosis; Caspase 3; Caspases; Cell Respiration; Cells, Cultured; Cerebral Cortex; Cytochrome c Group; DNA Fragmentation; Enzyme Activation; Humans; Intracellular Membranes; Keto Acids; Leucine; Maple Syrup Urine Disease; Membrane Potentials; Mice; Mitochondria; Neuroglia; Neurons; Rats; Rats, Wistar | 2000 |
Very high plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease.
Topics: Brain; Central Nervous System Diseases; Child; Humans; Leucine; Male; Maple Syrup Urine Disease; Patient Compliance; Quality of Life | 2000 |
Inhibition of glutamate uptake into synaptic vesicles of rat brain by the metabolites accumulating in maple syrup urine disease.
Topics: Animals; Brain; Glutamic Acid; Hemiterpenes; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Neurons; Rats; Rats, Wistar; Synaptic Vesicles; Synaptosomes; Valine | 2000 |
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation.
Topics: Adolescent; Female; Humans; Isoleucine; Leucine; Liver Transplantation; Maple Syrup Urine Disease; Oxidation-Reduction | 2000 |
Reduction of large neutral amino acid levels in plasma and brain of hyperleucinemic rats.
Topics: Amino Acids; Animals; Blood Glucose; Chromatography, High Pressure Liquid; Female; Insulin; Leucine; Male; Maple Syrup Urine Disease; Rats; Rats, Wistar | 2001 |
Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease.
Topics: Adolescent; Case-Control Studies; Child; Female; Food; Humans; Leucine; Male; Maple Syrup Urine Disease; Oxidation-Reduction | 2001 |
Plasma amino acid analyses in two cases of maple syrup urine disease.
Topics: Amino Acids; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Valine | 1999 |
[Maple syrup urine disease].
Topics: Atrophy; Brain; Cerebellum; Chromatography, Paper; Female; Humans; Infant; Isoleucine; Leucine; Magnetic Resonance Imaging; Maple Syrup Urine Disease; Mesencephalon; Valine | 2001 |
Large neutral amino acids auto exchange when infused by microdialysis into the rat brain: implication for maple syrup urine disease and phenylketonuria.
Topics: Amino Acid Transport Systems, Neutral; Amino Acids, Cyclic; Amino Acids, Neutral; Animals; Binding, Competitive; Biological Transport; Blood-Brain Barrier; Brain; Extracellular Space; Hippocampus; Keto Acids; Leucine; Maple Syrup Urine Disease; Microdialysis; Models, Biological; Nerve Tissue Proteins; Neurons; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 2002 |
Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease.
Topics: Acute Disease; Adolescent; Child; Child, Preschool; Cohort Studies; Enteral Nutrition; Female; Hemofiltration; Humans; Infant, Newborn; Intensive Care Units; Leucine; Male; Maple Syrup Urine Disease; Nervous System Diseases; Proteins; Survival Rate; Treatment Outcome | 2001 |
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Adult; Alanine; Amino Acids, Branched-Chain; Clinical Protocols; Female; Follow-Up Studies; Furosemide; Humans; Hydrazines; Infant, Newborn; Isoleucine; Ketone Oxidoreductases; Leucine; Mannitol; Maple Syrup Urine Disease; Multienzyme Complexes; Mutation; Neonatal Screening; Osmolar Concentration; Polymerase Chain Reaction; Saline Solution, Hypertonic; Sodium; Treatment Outcome; Valine | 2002 |
The influence of branched chain aminoacids and their ketoderivatives on renal gluconeogenesis.
Topics: Amino Acids; Animals; Calcium; Fructose; Gluconeogenesis; Humans; Hydrogen-Ion Concentration; In Vitro Techniques; Isoleucine; Keto Acids; Kidney Tubules; Kinetics; Lactates; Leucine; Male; Maple Syrup Urine Disease; Oxygen Consumption; Pyruvates; Rats; Succinates; Valine | 1976 |
Antenatal diagnosis of maple-syrup-urine disease.
Topics: Amniocentesis; Amniotic Fluid; Carbon Radioisotopes; Decarboxylation; Female; Fibroblasts; Humans; Leucine; Maple Syrup Urine Disease; Pregnancy; Pyruvates | 1979 |
Maple syrup urine disease: emergency treatment of the neonate.
Topics: Emergencies; Enteral Nutrition; Exchange Transfusion, Whole Blood; Food, Formulated; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Maple Syrup Urine Disease | 1978 |
Newborn screening for maple syrup urine disease (branched-chain ketoaciduria).
Topics: Bacillus subtilis; Biological Assay; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Maple Syrup Urine Disease; Mass Screening; New Zealand; Pacific Islands; United States | 1978 |
Prolongation of G1 and S phase in C-6 glioma cells treated with maple syrup urine disease metabolits. Morphologic and cell cycle studies.
Topics: Caproates; Cell Count; Cell Cycle; Cell Line; Humans; Interphase; Isoleucine; Keto Acids; Kinetics; Leucine; Maple Syrup Urine Disease; Mitosis; Neuroglia; Valine | 1978 |
A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease.
Topics: Amniotic Fluid; Cells, Cultured; Decarboxylation; Female; Fibroblasts; Heterozygote; Homozygote; Humans; Keto Acids; Leucine; Maple Syrup Urine Disease; Pregnancy; Prenatal Diagnosis | 1978 |
Maple syrup urine disease: treatment of the acutely ill newborn.
Topics: Energy Intake; Exchange Transfusion, Whole Blood; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Male; Maple Syrup Urine Disease; Peritoneal Dialysis | 1978 |
Dietary management of maple-sirup-urine disease: extension of equivalency systems.
Topics: Child; Child, Preschool; Cooking; Dietary Proteins; Energy Intake; Humans; Infant; Infant Food; Isoleucine; Leucine; Maple Syrup Urine Disease; Methods; Valine | 1979 |
The child with an unusual odor. A clinical resumé.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Odorants; Phenylketonurias; Tyrosine | 1976 |
Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.
Topics: Caproates; Carbon Radioisotopes; Cells, Cultured; Fibroblasts; Humans; Leucine; Maple Syrup Urine Disease; Oxo-Acid-Lyases | 1977 |
A new variety of maple syrup urine disease.
Topics: Amino Acids; Amniocentesis; Biological Transport; Carboxy-Lyases; Erythrocytes; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine | 1977 |
Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.
Topics: 2-Methyl-4-chlorophenoxyacetic Acid; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Cell Line; Cells, Cultured; Depression, Chemical; Fibroblasts; Flavin-Adenine Dinucleotide; Glycine; Humans; Leucine; Maple Syrup Urine Disease; Oxidation-Reduction; Skin; Succinates; Valerates; Valine | 1976 |
Dietary treatment of maple sirup urine disease (branched-chain ketoaciduria).
Topics: Body Weight; Child; Child, Preschool; Dietary Proteins; Energy Metabolism; Food Analysis; Humans; Infant; Infant Food; Infant, Newborn; Leucine; Maple Syrup Urine Disease | 1976 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine | 1976 |
Electroencephalograms in a case of maple syrup urine disease: their relation to serum levels of branched-chain amino acids.
Topics: Amino Acids, Essential; Brain; Dietary Proteins; Electroencephalography; Humans; Infant; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Valine | 1976 |
Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.
Topics: Adult; Amino Acids; Carboxy-Lyases; Cell Division; Cells, Cultured; Humans; Isoleucine; Leucine; Lymphocytes; Male; Maple Syrup Urine Disease; Valine | 1976 |
[Leucinosis--a case of congenital metabolic disease in a child].
Topics: Female; Humans; Infant; Leucine; Maple Syrup Urine Disease; Psychomotor Disorders | 1976 |
Management of maple syrup urine disease in Canada. Committee for improvement of Hereditary Disease Management.
Topics: Canada; Health Facilities; Humans; Infant; Leucine; Maple Syrup Urine Disease; Nutritional Requirements | 1976 |
Maple syrup urine disease. Two cases in Israel.
Topics: Female; Humans; Infant; Isoleucine; Israel; Leucine; Male; Maple Syrup Urine Disease; Pedigree; Peritoneal Dialysis; Valine | 1975 |
[Disorders of leucine, isoleucine and valine metabolism (maple syrup urine disease)].
Topics: Female; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1975 |
Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts.
Topics: Butyrates; Carboxy-Lyases; Cells, Cultured; Decarboxylation; Fibroblasts; Humans; Infant, Newborn; Isoleucine; Keto Acids; Leucine; Maple Syrup Urine Disease; Multienzyme Complexes; Oxidoreductases; Pentanoic Acids; Pyruvates; Valine | 1975 |
Proceedings: Neonatal diagnosis of maple syrup urine disease and the influence of exchange blood transfusion.
Topics: Exchange Transfusion, Whole Blood; Female; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1975 |
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1991 |
[A mild variant case of maple syrup urine disease].
Topics: Atrophy; Brain Stem; Cerebellum; Child; Demyelinating Diseases; Fibroblasts; Humans; Isoleucine; Leucine; Magnetic Resonance Imaging; Male; Maple Syrup Urine Disease | 1991 |
Acute illness in maple syrup urine disease: dynamics of protein metabolism and implications for management.
Topics: Acute Disease; Amino Acids, Branched-Chain; Child, Preschool; Female; Humans; Infant; Leucine; Maple Syrup Urine Disease; Proteins; Respiratory Tract Infections | 1991 |
Intellectual outcome in children with maple syrup urine disease.
Topics: Adult; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Intelligence; Intelligence Tests; Leucine; Male; Maple Syrup Urine Disease; Prognosis; Prospective Studies; Regression Analysis | 1991 |
On the mechanism of L-alloisoleucine formation: studies on a healthy subject and in fibroblasts from normals and patients with maple syrup urine disease.
Topics: Amino Acids, Branched-Chain; Cells, Cultured; Creatinine; Culture Media; Fibroblasts; Humans; Isoleucine; Keto Acids; Least-Squares Analysis; Leucine; Maple Syrup Urine Disease; Metabolic Clearance Rate; Reference Values; Skin; Stereoisomerism; Valine | 1990 |
Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Body Weight; Child, Preschool; Creatinine; Dietary Proteins; Female; Food, Formulated; Growth; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Malonates; Maple Syrup Urine Disease; Methylmalonic Acid; Nutritional Requirements; Valine | 1990 |
Protein and leucine metabolism in maple syrup urine disease.
Topics: Child; Dietary Proteins; Female; Humans; Kinetics; Leucine; Male; Maple Syrup Urine Disease; Phenylalanine; Proteins; Radioisotope Dilution Technique; Reference Values; Time Factors; Tritium | 1990 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine | 1990 |
Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Calibration; Chromatography, Liquid; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Reference Values | 1990 |
[Maple syrup urine disease and cystathioninemia].
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Enteral Nutrition; Follow-Up Studies; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Parenteral Nutrition, Total; Valine | 1989 |
Analysis of maple syrup urine disease in cell culture: use of substrates.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Cells, Cultured; Fibroblasts; Hemiterpenes; Humans; Isoleucine; Keto Acids; Ketone Oxidoreductases; Leucine; Maple Syrup Urine Disease; Multienzyme Complexes; Substrate Specificity; Valine | 1989 |
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Carbon Dioxide; Carbon Radioisotopes; Cell Line; Chromatography, Liquid; Fibroblasts; Humans; Ketone Oxidoreductases; Leucine; Maple Syrup Urine Disease; Multienzyme Complexes; Valine | 1986 |
Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Cell Line; Female; Humans; Infant, Newborn; Ketone Oxidoreductases; Kinetics; Leucine; Male; Maple Syrup Urine Disease; Multienzyme Complexes | 1988 |
Effect of insulin on leucine kinetics in maple syrup urine disease.
Topics: Child; Humans; Insulin; Kinetics; Leucine; Maple Syrup Urine Disease; Mathematics; Oxidation-Reduction | 1987 |
[Metabolic study of the classic form of leucinosis during exchange transfusion therapy].
Topics: Exchange Transfusion, Whole Blood; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1987 |
[Leucinosis: study of a case].
Topics: Female; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Valine | 1985 |
Metabolism of leucine in fibroblasts from patients with deficiencies in each of the major catabolic enzymes: branched-chain ketoacid dehydrogenase, isovaleryl-CoA dehydrogenase, 3-methylcrotonyl-CoA carboxylase, 3-methylglutaconyl-CoA hydratase, and 3-hyd
Topics: 2-Oxoisovalerate Dehydrogenase (Acylating); Carbon-Carbon Ligases; Cells, Cultured; Fibroblasts; Humans; Hydro-Lyases; Isovaleryl-CoA Dehydrogenase; Ketone Oxidoreductases; Leucine; Ligases; Maple Syrup Urine Disease; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Oxo-Acid-Lyases | 1985 |
Newborn screening for maple syrup urine disease.
Topics: Amino Acids; Humans; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease | 1985 |
Maple syrup urine disease: two different forms within a single family.
Topics: Adolescent; Adult; Child; Decarboxylation; Female; Fibroblasts; Genetic Variation; Heterozygote; Humans; Leucine; Male; Maple Syrup Urine Disease; Pedigree | 1985 |
Peritoneal dialysis in maple syrup urine disease.
Topics: Exchange Transfusion, Whole Blood; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Maple Syrup Urine Disease; Peritoneal Dialysis | 1969 |
[Blood cells as indicators of metabolic disorders].
Topics: Acidosis; Adrenal Insufficiency; Alcoholism; Alkalosis; Diabetes Mellitus; Down Syndrome; Electrolytes; Erythrocytes; Galactosemias; Glucosephosphate Dehydrogenase; Glycogen Storage Disease; Humans; Hyperaldosteronism; Hypertension; Hyperthyroidism; Kidney Failure, Chronic; Leucine; Leukocytes; Maple Syrup Urine Disease; Metabolic Diseases; Muscular Dystrophies; Paralyses, Familial Periodic; Potassium; Sodium; Vitamin B Deficiency | 1967 |
[Dietetics in hereditary enzyme deficiencies].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
Classical maple syrup urine disease: cofactor resistance.
Topics: Amino Acids; Carbon Isotopes; Cells, Cultured; Coenzyme A; Coenzymes; Female; Fibroblasts; Flavin-Adenine Dinucleotide; Genetics, Medical; Humans; Infant, Newborn; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; NAD; Pyridoxal Phosphate; Pyruvates; Skin; Thiamine Pyrophosphate; Thioctic Acid; Valine | 1972 |
[Studies on "branched chain oxoacid aciduria" (maple syrup diseases)].
Topics: Child, Preschool; Coenzyme A; D-Amino-Acid Oxidase; Female; Humans; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Oxidoreductases; Valine | 1966 |
Inhibition by the branched-chain 2-oxo acids of the 2-oxoglutarate dehydrogenase complex in developing rat and human brain.
Topics: Age Factors; Animals; Brain; Carbon Dioxide; Decarboxylation; Humans; Isoleucine; Keto Acids; Ketoglutarate Dehydrogenase Complex; Ketone Oxidoreductases; Kinetics; Leucine; Maple Syrup Urine Disease; Mitochondria; Molecular Conformation; Rats; Valine | 1974 |
[Diet therapy of some inborn errors of metabolism].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine | 1974 |
Multiple exchange transfusions as treatment during the acute period in maple syrup urine disease.
Topics: Acute Disease; Amino Acids; Chromatography, Thin Layer; Exchange Transfusion, Whole Blood; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Maple Syrup Urine Disease; Methods | 1972 |
Attempted detection of heterozygotes for maple-syrup-urine disease.
Topics: Adolescent; Adult; Carbon Dioxide; Carbon Isotopes; Female; Heterozygote; Humans; Leucine; Leukocytes; Male; Maple Syrup Urine Disease; Methods; Middle Aged; Pedigree; Phenotype; Rural Population; Sex Factors; Urban Population | 1972 |
Variant maple syrup urine disease in mother and daughter.
Topics: Adult; Biopsy; Carboxy-Lyases; Cells, Cultured; Chromatography, Paper; Dietary Proteins; Female; Fibroblasts; Humans; Infant; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1973 |
[Results of screening studies for phenylketonuria, maple syrup disease and homocystinuria using Guthrie's test].
Topics: Germany, East; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias | 1973 |
Determination of alpha-keto acids as silylated oximes in urine and serum by combined gas chromatography-mass spectrometry.
Topics: Adult; Animals; Child; Chromatography, Gas; Diet; Evaluation Studies as Topic; Humans; Isoleucine; Keto Acids; Leucine; Maple Syrup Urine Disease; Mass Spectrometry; Methods; Oximes; Phenols; Temperature; Valine | 1973 |
Maple syrup urine disease variant: report on an infant.
Topics: Amino Acids; Ataxia; Body Weight; Carboxy-Lyases; Child Development; Coma; Diet Therapy; Fibroblasts; Growth Disorders; Humans; Infant; Isoleucine; Leucine; Leukocytes; Male; Maple Syrup Urine Disease; Motor Skills; Valine | 1974 |
Inhibition of alanine and aspartate aminotransferases by alpha-oxoderivatives of the branched-chain amino acids.
Topics: Alanine Transaminase; Amino Acids; Animals; Aspartate Aminotransferases; Azoles; Binding Sites; Brain; Caproates; Humans; Keto Acids; Kinetics; Leucine; Liver; Maple Syrup Urine Disease; Organ Specificity; Protein Binding; Pyridoxamine; Rats; Spectrophotometry, Ultraviolet; Transaminases; Valerates | 1974 |
Maple syrup urine disease: coenzyme function and prenatal monitoring.
Topics: Adult; Amino Acids; Amniotic Fluid; Carbon Dioxide; Carbon Radioisotopes; Cells, Cultured; Coenzyme A; Decarboxylation; Fasting; Female; Fibroblasts; Genotype; Heterozygote; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Maternal-Fetal Exchange; Pregnancy; Prenatal Diagnosis; Radioimmunoassay; Valine | 1974 |
Effects of maple syrup urine disease metabolites on mouse L-fibroblasts in vitro: a fine structural and biochemical study.
Topics: Animals; Caprylates; Carbon Radioisotopes; Cell Count; Cell Division; Chromatography, Thin Layer; Humans; Hydrogen-Ion Concentration; Isoleucine; Keto Acids; L Cells; Leucine; Maple Syrup Urine Disease; Mice; Microscopy, Electron; Time Factors; Tritium; Valerates | 1974 |
Chemical pathology of amino acid diseases.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child; Child, Preschool; Female; Homocystine; Humans; Hypoglycemia; Infant; Intellectual Disability; Leucine; Male; Maple Syrup Urine Disease; Methionine; Pyridoxine; Valine | 1968 |
Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases.
Topics: Child, Preschool; Humans; Hyperkinesis; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Pedigree; Pyruvates; Valine | 1972 |
Ketotic hypoglycaemia associated with transient branched-chain aminoacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Birth Weight; Blood Glucose; Child; Child, Preschool; Creatinine; Diet Therapy; Female; Growth Hormone; Humans; Hypoglycemia; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Pre-Eclampsia; Pregnancy; Valine | 1972 |
Semiquantitation of leucine, isoleucine, and valine by thin-layer chromatography in management of maple-syrup urine diseases.
Topics: Amniotic Fluid; Ascitic Fluid; Chromatography, Ion Exchange; Chromatography, Thin Layer; Diet Therapy; Evaluation Studies as Topic; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methods; Peritoneal Dialysis; Phenylalanine; Pregnancy; Valine | 1972 |
Enzyme activity in classical and variant forms of maple syrup urine disease.
Topics: Autoradiography; Carbon Isotopes; Carboxy-Lyases; Child; Dietary Proteins; Female; Fibroblasts; Humans; Isoleucine; Keto Acids; Leucine; Leukocytes; Male; Maple Syrup Urine Disease; Skin; Valine | 1972 |
[Rapid separation of aromatic and ramified amino acids by chromatography on ion exchange columns. Application to the surveillance of leucinosis and hyperphenylalaninemia].
Topics: Amino Acids; Chromatography, Ion Exchange; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Methods; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1972 |
A case of classical maple syrup urine disease "thiamine non-responsive".
Topics: Adult; Animals; Carboxy-Lyases; Child, Preschool; Diet Therapy; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Leukocytes; Male; Maple Syrup Urine Disease; Milk; Neurologic Manifestations; Pregnancy; Thiamine; Valine | 1972 |
[Maple syrup urine disease with an intermittent relatively benign course].
Topics: Adult; Child, Preschool; Diet Therapy; Female; Humans; Infant; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Oxidoreductases; Valine | 1971 |
Leucine equivalency system in managing branched chain ketoaciduria.
Topics: Amino Acids; Chemical Phenomena; Chemistry; Diet; Diet Therapy; Female; Food Analysis; Growth; Humans; Infant Food; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Keto Acids; Leucine; Maple Syrup Urine Disease; Methods; Phenylalanine; Time Factors; Valine | 1971 |
A variant form of branched-chain keto aciduria.
Topics: Amino Acids; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Dietary Proteins; Female; Heterozygote; Humans; Infant; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Methionine; Motor Skills; Pedigree; Phenylketonurias; Tyrosine; Valine | 1971 |
Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.
Topics: Adolescent; Adult; Amino Acids; Carbon Isotopes; Carboxy-Lyases; Child; Child, Preschool; Culture Techniques; Dietary Proteins; Female; Fibroblasts; Galactosidases; Genetic Variation; Humans; Infant; Infant, Newborn; Intelligence; Isoleucine; Keto Acids; Leucine; Leukocytes; Maple Syrup Urine Disease; Oxidoreductases; Valine | 1971 |
Intermittent branched chain ketonuria (variant of maple syrup urine disease).
Topics: Canada; Carboxy-Lyases; Cells, Cultured; Diet Therapy; Female; Fibroblasts; Humans; Infant; Isoleucine; Keto Acids; Leucine; Maple Syrup Urine Disease; Skin; Time Factors; Valine | 1971 |
A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.
Topics: Amino Acids; Carboxy-Lyases; Creatinine; Diet Therapy; Enzyme Induction; Female; Fibroblasts; Humans; Infant; Isoleucine; Keto Acids; Leucine; Leukocytes; Maple Syrup Urine Disease; Uric Acid; Valine | 1970 |
[Attempted diet therapy of a case of maple syrup disease].
Topics: Diet Therapy; Humans; Infant; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Valine | 1970 |
[Experiences with a new amino acid analyzer for a rapid analysis].
Topics: Amino Acids; Autoanalysis; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
Inhibition of alpha-oxoglutarate and pyruvate oxidation by alpha-oxoderivatives of leucine and valine in rat tissues.
Topics: Animals; Brain; Caproates; Citrates; Coenzyme A; Humans; Keto Acids; Ketoglutaric Acids; Kidney; Kinetics; Leucine; Malates; Maple Syrup Urine Disease; Metabolism; Mitochondria; Mitochondria, Liver; Mitochondria, Muscle; Myocardium; Oxidoreductases; Pyruvates; Rats; Valerates; Valine; Vibration | 1970 |
[Leucinose. II. Study of heterozygotes].
Topics: Adult; Child; Chromatography, Thin Layer; Female; Heterozygote; Humans; Keto Acids; Leucine; Male; Maple Syrup Urine Disease | 1967 |
[On the clinical picture and pathological anatomy of the maple syrup disease ("branded chain ketoaciduria"). Report on 2 cases in 1 family].
Topics: Body Height; Body Weight; Diet Therapy; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Prognosis; Valine | 1968 |
[Hereditary metabolic diseases: maple syrup disease].
Topics: Body Height; Body Weight; Child, Preschool; Diet Therapy; Female; Humans; Infant; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Valine | 1968 |
[Biochemical-genetic studies in maple syrup disease].
Topics: Genetics, Medical; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1968 |
M aple syrup urine disease. A review with a report of an additional case.
Topics: Diet Therapy; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Valine | 1969 |
Maple syrup urine disease metabolites studies in cerebellum cultures.
Topics: Animals; Animals, Newborn; Cerebellum; Culture Techniques; Humans; Isoleucine; Keto Acids; Leucine; Maple Syrup Urine Disease; Myelin Sheath; Neuroglia; Neurons; Rats; Time Factors; Valine | 1969 |
Maple syrup urine disease. Four years' experience with dietary treatment of a case.
Topics: Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Isoleucine; Leucine; Maple Syrup Urine Disease; Prognosis; Time Factors; Valine | 1969 |
[On the effect of dietetic prophylaxis on the myelogenesis of leucionsis (maple syrup urine disease)].
Topics: Amino Acids; Diet Therapy; Humans; Infant; Leucine; Male; Maple Syrup Urine Disease; Myelin Sheath | 1965 |
Oxidation of leucine, isoleucine and related ketoacids in developing rabbit brain.
Topics: Animals; Brain; Brain Chemistry; Carbon Dioxide; Glucose; Humans; In Vitro Techniques; Isoleucine; Keto Acids; Leucine; Maple Syrup Urine Disease; Oxidation-Reduction; Rabbits | 1965 |
[Maple syrup urine disease. (Valine-leucine-uria)].
Topics: Child; Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine | 1966 |