isoleucine and BCKD Deficiency

isoleucine has been researched along with BCKD Deficiency in 123 studies

Research

Studies (123)

Timeframe	Studies, this research(%)	All Research%
pre-1990	72 (58.54)	18.7374
1990's	13 (10.57)	18.2507
2000's	22 (17.89)	29.6817
2010's	14 (11.38)	24.3611
2020's	2 (1.63)	2.80

Authors

Authors	Studies
Charrow, J; Haymond, S; Lin, DC; Miller, A; Piri-Moghadam, H; Pronger, D; Vicente, F	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
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
Colby, JM; Dawling, S; Dietzen, DJ; Murray, T; Nichols, JH; Wiencek, JR	1
Basit, AW; Couce, ML; Duran Piñeiro, G; Gaisford, S; Giraldez Montero, JM; Gonzalez Barcia, M; Goyanes, A; Lamas Diaz, MJ; Madla, CM; Sánchez-Pintos, P; Taherali, F; Umerji, A	1
Andrés, A; Camarena, C; de la Vega, Á; Díaz, C; Díaz, VM; Hernández, F; Jara, P; López, M; Martínez-Pardo, M	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
Karkra, S; Mohan, N; Rastogi, A; Soin, AS; Vohra, V	1
Abiri, M; Alaei, MR; Bagheri, SD; Bagherian, H; Ghadami, S; Karamzadeh, R; Karimipoor, M; Noori-Daloii, MR; Setoodeh, A	1
Chikowski, R; Flores, K; Morrell, DS	1
Ekbote, AV; Kumar, M; Ross, B; Srinivasan, H	1
Matsuo, M; Padilla, CD; Silao, CL	1
Fingerhut, R	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
Abdenur, JE; Chang, R; Levine, S; Lipson, MH; Lorey, F; Matern, D; Puckett, RL; Rinaldo, P; Sowa, ME; Wang, RY	1
Karnes, HT; Miller, JH; Poston, PA	1
Hong, SP; Jeong, JS; Kwon, HJ; Lee, YM; Sim, HJ; Yoon, HR	1
Alodaib, A; Carpenter, K; Christodoulou, J; Sim, K; Wilcken, B; Wiley, V	1
Desviat, LR; Martínez-Pardo, M; Merinero, B; Navarrete, R; Oyarzabal, A; Rodríguez-Pombo, P; Ugarte, M	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; HUTZLER, J; LEVITZ, M	2
WESTALL, RG	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
GELLER, E; SLATER, GG; YUWILER, A	1
HOLT, LE; NORTON, PM; ROITMAN, E; SNYDERMAN, SE	1
BARBER, DH; LONSDALE, D	1
Braum, CA; Bridi, R; Dutra-Filho, CS; Latini, A; Lissi, E; Moacir, W; Zorzi, GK	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
Ben-Omran, TI; Blaser, S; Callahan, J; Feigenbaum, A; Phillips, H	1
Beani, JC; Boujet, C; Lantuejoul, S; Leccia, MT; Nguyen, MA; Reymond, JL; Templier, I	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
Casetta, B; Lacey, JM; Magera, MJ; Matern, D; Oglesbee, D; Rinaldo, P; Sanders, KA; Strauss, KA; Tortorelli, S	1
Snyderman, SE	1
Martin, JK; Norman, RM	1
Halvorsen, S; Kindt, E	1
Centeno, C; Ojembarrena, E; Rodríguez Soriano, J; Sanjurjo, P; Vallo, A	1
Akaboshi, I; Jinno, Y; Katsuki, T; Matsuda, I	1
DiGeorge, AM; Garibaldi, LR; Rezvani, I; Schwartz, M	1
Harper, AE; Hutson, SM	1
Ben-Galim, E; Bier, DM; Haymond, MW; Matthews, DE	1
Chace, DH; Hillman, SL; Kahler, SG; Millington, DS; Naylor, EW; Roe, CR	1
Berry, GT; Giacoia, GP	1
Koch, SE; Koch, TK; Packman, S; Williams, ML	1
Tornqvist, H; Tornqvist, K	1
Hammen, HW; Ott, AC; Schadewaldt, P; Wendel, U	1
Bodner-Leidecker, A; Hammen, HW; Schadewaldt, P; Wendel, U	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
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
Kelley, RI; Morton, DH; Puffenberger, EG; Robinson, DL; Strauss, KA	1
Kasten, R; Kraus, H; Stumpf, B	1
Gracey, BM	1
Bensch, KG; Herman, MM; Liao, CL	1
Bell, L; Chao, E; Milne, J	1
Cockburn, F; Darling, JA; Giles, MM; Grant, M; Harkness, RA; Turner, TL	1
Iinuma, K; Onuma, A; Saito, T; Takamatsu, N; Wada, Y	1
Molden, DP; Seegmiller, JE; Skaper, SD	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
Mamer, OA; Reimer, ML	1
Dalle-Feste, C; Langenbeck, U; Schadewaldt, P; Wendel, U	1
Miller, JB; Qu, Y; Shapira, E; Slocum, RH	1
Fukushima, N; Ishikawa, A; Miyasaka, K; Okayasu, T; Takase, A; Wagatsuma, Y	1
Dalle-Feste, C; Hammen, HW; Schadewaldt, P; Wendel, U	1
Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M	1
Berger, H; Simma, B; Sperl, W	1
Beck, K; Schadewaldt, P; Wendel, U	1
Langenbeck, U; Seakins, JW; Wendel, U	1
Houstková, H; Hyánek, J; Konecná, L; Pehal, F; Plavka, R; Rubín, A; Verner, P; Wendel, U; Zapadlo, M; Zeman, J	1
Schadewaldt, P; Wendel, U	1
Funayama, CA; Moura-Ribeiro, MV	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
Cox, RP; Dancis, J; Hill, A; Hutzler, J; Zaleski, LA; Zaleski, WA	1
Gaull, G; Hutterer, F; Roboz, J; Sternowsky, HJ	1
Koepp, P; Rüdiger, HW; Rybak, C; Wendel, U	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
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
Halpern, B; Pollock, GE	1
Clotten, R; Noetzel, H; Sander, C; Wehinger, H	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
Milstein, JM; Swaiman, KF	1
Beneke, G; Peiffer, J; Platt, D; Schmidt, GW	1

Reviews

2 review(s) available for isoleucine and BCKD Deficiency

Article	Year
[MAPLE SYRUP URINE DISEASE]. Maandschrift voor kindergeneeskunde, 1963, Volume: 31 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
[A case of maple syrup disease. Clinical and electroencephalographic observations with dietetic experiment. Critical review of literature]. Minerva pediatrica, 1967, Aug-18, Volume: 19, Issue:33 Topics: Diet; Electroencephalography; Female; Humans; Infant; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine	1967

Trials

1 trial(s) available for isoleucine and BCKD Deficiency

Article	Year
Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients. International journal of pharmaceutics, 2019, Aug-15, Volume: 567 Topics: Adolescent; Child; Child, Preschool; Coloring Agents; Cross-Over Studies; Dosage Forms; Female; Flavoring Agents; Humans; Isoleucine; Male; Maple Syrup Urine Disease; Pilot Projects; Printing, Three-Dimensional; Taste	2019

Article

Year

Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients.

International journal of pharmaceutics, 2019, Aug-15, Volume: 567

Topics: Adolescent; Child; Child, Preschool; Coloring Agents; Cross-Over Studies; Dosage Forms; Female; Flavoring Agents; Humans; Isoleucine; Male; Maple Syrup Urine Disease; Pilot Projects; Printing, Three-Dimensional; Taste

2019

Other Studies

120 other study(ies) available for isoleucine and BCKD Deficiency

Article	Year
Quantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS). Methods in molecular biology (Clifton, N.J.), 2022, Volume: 2546 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
Genotype-phenotype correlation of 33 patients with maple syrup urine disease. American journal of medical genetics. Part A, 2020, Volume: 182, Issue:11 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
Neurocognitive profiles in MSUD school-age patients. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:3 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
Persistently Increased Alloisoleucine in a Patient with Seizures. Clinical chemistry, 2018, Volume: 64, Issue:10 Topics: Anticonvulsants; Blood Chemical Analysis; Child, Preschool; Diagnosis, Differential; Female; Humans; Isoleucine; Maple Syrup Urine Disease; Reference Standards; Seizures; Zonisamide	2018
Liver transplantation for classical maple syrup urine disease: long-term follow-up. Journal of pediatric gastroenterology and nutrition, 2014, Volume: 59, Issue:5 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
Living related versus deceased donor liver transplantation for maple syrup urine disease. Molecular genetics and metabolism, 2016, Volume: 117, Issue:3 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
Living donor liver transplantation in maple syrup urine disease - Case series and world's youngest domino liver donor and recipient. Pediatric transplantation, 2016, Volume: 20, Issue:3 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
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis. Mutation research, 2016, Volume: 786 Topics: Amino Acids, Branched-Chain; Asian People; Computational Biology; DNA Mutational Analysis; Exons; Female; Gene Deletion; Genetic Markers; Homozygote; Humans; Infant; Infant, Newborn; Iran; Isoleucine; Male; Maple Syrup Urine Disease; Microsatellite Repeats; Phenotype; Point Mutation; Protein Conformation	2016
Acrodermatitis dysmetabolica in an infant with maple syrup urine disease. Clinical and experimental dermatology, 2016, Volume: 41, Issue:6 Topics: Acrodermatitis; Alopecia; Amino Acids, Branched-Chain; Diagnosis, Differential; Diarrhea; Humans; Infant; Isoleucine; Male; Maple Syrup Urine Disease; Zinc	2016
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica. Indian pediatrics, 2016, Aug-08, Volume: 53, Issue:8 Topics: Acrodermatitis; Breast Feeding; Diagnosis, Differential; Humans; Infant Formula; Infant, Newborn; Isoleucine; Maple Syrup Urine Disease; Zinc	2016
Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection. Pediatrics international : official journal of the Japan Pediatric Society, 2008, Volume: 50, Issue:3 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
Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline. European journal of pediatrics, 2009, Volume: 168, Issue:5 Topics: Humans; Hydroxyproline; Infant, Newborn; Isoleucine; Maple Syrup Urine Disease; Neonatal Screening; Predictive Value of Tests; Prospective Studies; Tandem Mass Spectrometry	2009
Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients. Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2 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. Pakistan journal of biological sciences : PJBS, 2007, Aug-01, Volume: 10, Issue:15 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. Clinical biochemistry, 2009, Volume: 42, Issue:6 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
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Molecular genetics and metabolism, 2010, Volume: 100, Issue:2 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
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. Analytical and bioanalytical chemistry, 2011, Volume: 400, Issue:1 Topics: Biomarkers; Chromatography, Liquid; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Reference Standards; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry	2011
Chromatographic diagnosis of maple syrup urine disease by measuring the L-alloisoleucine/L-phenylalanine ratio in dried blood spots. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2011, Jul-15, Volume: 879, Issue:22 Topics: Adult; Blood Specimen Collection; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Male; Maple Syrup Urine Disease; Phenylalanine; Reproducibility of Results; Sensitivity and Specificity	2011
An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples. Annals of clinical biochemistry, 2011, Volume: 48, Issue:Pt 5 Topics: Amino Acids, Branched-Chain; Calibration; Chromatography, Liquid; Dried Blood Spot Testing; Humans; Infant, Newborn; Isoleucine; Maple Syrup Urine Disease; Neonatal Screening; Quality Improvement; Reference Standards; 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. Human mutation, 2013, Volume: 34, Issue:2 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
Kinetic studies on the inhibition of creatine kinase activity by branched-chain alpha-amino acids in the brain cortex of rats. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2003, Volume: 21, Issue:3 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. Neurochemical research, 2003, Volume: 28, Issue:5 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. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2003, Jul-25, Volume: 792, Issue:2 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. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2003, Volume: 21, Issue:6 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. British medical journal, 1959, Jan-10, Volume: 1, Issue:5114 Topics: Biochemical Phenomena; Child; Humans; Infant; Intellectual Disability; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Valine	1959
THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE. Pediatrics, 1963, Volume: 32 Topics: Chromatography; Humans; In Vitro Techniques; Isoleucine; Keto Acids; Ketosis; Leucine; Leukocytes; Maple Syrup Urine Disease; Metabolism; Research; Valine	1963
DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA). Archives of disease in childhood, 1963, Volume: 38 Topics: Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine	1963
THE EXCHANGE OF 14CO2 WITH BRANCHED-CHAIN KETOACIDS BY GUINEA-PIG LIVER. Biochimica et biophysica acta, 1963, Oct-08, Volume: 78 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. The Journal of the Maine Medical Association, 1964, Volume: 55 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]. Anales. Universidad Nacional Mayor de San Marcos. Facultad de Medicina, 1963, Volume: 46 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. British medical journal, 1964, May-16, Volume: 1, Issue:5393 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. Clinical pediatrics, 1964, Volume: 3 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). Acta paediatrica, 1964, Volume: 53 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
DIETARY ISOLEUCINE INHIBITION OF LIVER TRYPTOPHAN HYDROXYLASE. Life sciences (1962), 1964, Volume: 3 Topics: Brain; Carboxy-Lyases; Diet; Isoleucine; Liver; Maple Syrup Urine Disease; Mixed Function Oxygenases; Phenylketonurias; Rats; Research; Tryptophan Hydroxylase	1964
MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY. Pediatrics, 1964, Volume: 34 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. The New England journal of medicine, 1964, Dec-24, Volume: 271 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
Evaluation of the mechanisms involved in leucine-induced oxidative damage in cerebral cortex of young rats. Free radical research, 2005, Volume: 39, Issue:1 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
A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD). Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 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]. Annales de pediatrie, 1977, Volume: 24, Issue:8-9 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. Pediatric annals, 2005, Volume: 34, Issue:10 Topics: Amino Acids; Diagnosis, Differential; Feeding and Eating Disorders; Humans; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Sleep Stages; Valine; Vomiting	2005
Atypical phenotype in a boy with a maple syrup urine disease. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Amino Acids, Branched-Chain; Brain; Cerebellum; Developmental Disabilities; Humans; Infant; Intellectual Disability; Isoleucine; Male; Maple Syrup Urine Disease; Phenotype	2006
[Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency during treatment of maple syrup urine disease]. Annales de dermatologie et de venereologie, 2006, Volume: 133, Issue:4 Topics: Acrodermatitis; Female; Humans; Infant; Isoleucine; Maple Syrup Urine Disease; Syndrome; Valine	2006
Newborn screening may fail to identify intermediate forms of maple syrup urine disease. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:4 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. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2007, Volume: 25, Issue:5 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]. Roczniki Panstwowego Zakladu Higieny, 2007, Volume: 58, Issue:1 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
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clinical chemistry, 2008, Volume: 54, Issue:3 Topics: Amino Acids, Branched-Chain; Chromatography, Liquid; Humans; Infant, Newborn; Isoleucine; Maple Syrup Urine Disease; Neonatal Screening; Tandem Mass Spectrometry	2008
The therapy of maple syrup urine disease. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Child; Child, Preschool; Diet Therapy; Female; Growth; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Methionine; Neurologic Manifestations; Valine	1967
Maple syrup urine disease in an infant with microgyria. Developmental medicine and child neurology, 1967, Volume: 9, Issue:2 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. The American journal of clinical nutrition, 1980, Volume: 33, Issue:2 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
[Isolated isoleucine deficiency in diet therapy of a case of maple syrup urine disease]. Anales espanoles de pediatria, 1983, Volume: 19, Issue:5 Topics: Acrodermatitis; Amino Acids, Branched-Chain; Female; Humans; Infant Food; Infant, Newborn; Isoleucine; Maple Syrup Urine Disease	1983
Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity. Human genetics, 1984, Volume: 65, Issue:4 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
Prospective study of maple-syrup-urine disease for the first four days of life. The New England journal of medicine, 1982, Dec-09, Volume: 307, Issue:24 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. The American journal of clinical nutrition, 1981, Volume: 34, Issue:2 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
Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism. Pediatric research, 1980, Volume: 14, Issue:7 Topics: Child; Child, Preschool; Female; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease	1980
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clinical chemistry, 1995, Volume: 41, Issue:1 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
Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. American journal of diseases of children (1960), 1993, Volume: 147, Issue:9 Topics: Acrodermatitis; Humans; Iatrogenic Disease; Infant Food; Infant, Newborn; Isoleucine; Male; Maple Syrup Urine Disease; Syndrome	1993
Dermatitis in treated maple syrup urine disease. Journal of the American Academy of Dermatology, 1993, Volume: 28, Issue:2 Pt 2 Topics: Dermatitis; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Recurrence	1993
Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with maple syrup urine disease. Acta ophthalmologica Scandinavica. Supplement, 1996, Issue:219 Topics: Acute Disease; Administration, Topical; Anti-Bacterial Agents; Chloramphenicol; Cornea; Corneal Ulcer; Epithelium; Female; Humans; Infant, Newborn; Isoleucine; Maple Syrup Urine Disease	1996
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:6 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
Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease. Clinical chemistry, 1999, Volume: 45, Issue:10 Topics: Adult; Diagnosis, Differential; Diet; Humans; Isoleucine; Male; Maple Syrup Urine Disease; Reference Values; Sensitivity and Specificity	1999
Inhibition of glutamate uptake into synaptic vesicles of rat brain by the metabolites accumulating in maple syrup urine disease. Journal of the neurological sciences, 2000, Dec-01, Volume: 181, Issue:1-2 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. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:8 Topics: Adolescent; Female; Humans; Isoleucine; Leucine; Liver Transplantation; Maple Syrup Urine Disease; Oxidation-Reduction	2000
Plasma amino acid analyses in two cases of maple syrup urine disease. The Southeast Asian journal of tropical medicine and public health, 1999, Volume: 30 Suppl 2 Topics: Amino Acids; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Valine	1999
[Maple syrup urine disease]. La Radiologia medica, 2001, Volume: 102, Issue:3 Topics: Atrophy; Brain; Cerebellum; Chromatography, Paper; Female; Humans; Infant; Isoleucine; Leucine; Magnetic Resonance Imaging; Maple Syrup Urine Disease; Mesencephalon; Valine	2001
Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics, 2002, Volume: 109, Issue:6 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. Current problems in clinical biochemistry, 1976, Volume: 6 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
Nursing care study. Maple syrup urine disease: quick diagnosis preserves a life. Nursing mirror, 1978, Nov-23, Volume: 147, Issue:21 Topics: Humans; Infant, Newborn; Isoleucine; Male; Maple Syrup Urine Disease; Pediatric Nursing	1978
Prolongation of G1 and S phase in C-6 glioma cells treated with maple syrup urine disease metabolits. Morphologic and cell cycle studies. Laboratory investigation; a journal of technical methods and pathology, 1978, Volume: 38, Issue:2 Topics: Caproates; Cell Count; Cell Cycle; Cell Line; Humans; Interphase; Isoleucine; Keto Acids; Kinetics; Leucine; Maple Syrup Urine Disease; Mitosis; Neuroglia; Valine	1978
Dietary management of maple-sirup-urine disease: extension of equivalency systems. Journal of the American Dietetic Association, 1979, Volume: 74, Issue:3 Topics: Child; Child, Preschool; Cooking; Dietary Proteins; Energy Intake; Humans; Infant; Infant Food; Isoleucine; Leucine; Maple Syrup Urine Disease; Methods; Valine	1979
A new variety of maple syrup urine disease. Annals of clinical biochemistry, 1977, Volume: 14, Issue:3 Topics: Amino Acids; Amniocentesis; Biological Transport; Carboxy-Lyases; Erythrocytes; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine	1977
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism. Pediatrics, 1976, Volume: 57, Issue:5 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. The Tohoku journal of experimental medicine, 1976, Volume: 120, Issue:2 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. Biochemical genetics, 1976, Volume: 14, Issue:7-8 Topics: Adult; Amino Acids; Carboxy-Lyases; Cell Division; Cells, Cultured; Humans; Isoleucine; Leucine; Lymphocytes; Male; Maple Syrup Urine Disease; Valine	1976
Maple syrup urine disease. Two cases in Israel. Israel journal of medical sciences, 1975, Volume: 11, Issue:8 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)]. Srpski arhiv za celokupno lekarstvo, 1975, Volume: 103, Issue:5 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. Pediatric research, 1975, Volume: 9, Issue:9 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. Israel journal of medical sciences, 1975, Volume: 11, Issue:11 Topics: Exchange Transfusion, Whole Blood; Female; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine	1975
On the mechanisms of the formation of L-alloisoleucine and the 2-hydroxy-3-methylvaleric acid stereoisomers from L-isoleucine in maple syrup urine disease patients and in normal humans. The Journal of biological chemistry, 1992, Nov-05, Volume: 267, Issue:31 Topics: Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Humans; Isoleucine; Magnetic Resonance Spectroscopy; Maple Syrup Urine Disease; Pentanoic Acids; Stereoisomerism	1992
Oral L-alloisoleucine loading studies in healthy subjects and in patients with maple syrup urine disease. Pediatric research, 1991, Volume: 30, Issue:5 Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Administration, Oral; Adolescent; Child; Female; Half-Life; Humans; Isoleucine; Keto Acids; Ketone Oxidoreductases; Kidney; Maple Syrup Urine Disease; Multienzyme Complexes; Tissue Distribution	1991
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens. Clinica chimica acta; international journal of clinical chemistry, 1991, Dec-16, Volume: 203, Issue:2-3 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]. No to hattatsu = Brain and development, 1991, Volume: 23, Issue:1 Topics: Atrophy; Brain Stem; Cerebellum; Child; Demyelinating Diseases; Fibroblasts; Humans; Isoleucine; Leucine; Magnetic Resonance Imaging; Male; Maple Syrup Urine Disease	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. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:2 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. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:2 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
[Maple syrup urine disease and cystathioninemia]. Padiatrie und Padologie, 1989, Volume: 24, Issue:1 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. Clinica chimica acta; international journal of clinical chemistry, 1989, Sep-15, Volume: 184, Issue:1 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
Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease. Pediatric research, 1989, Volume: 25, Issue:1 Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Chemical Phenomena; Chemistry; Child, Preschool; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Isoleucine; Isomerism; Ketone Oxidoreductases; Kinetics; Male; Maple Syrup Urine Disease; Multienzyme Complexes	1989
[Metabolic study of the classic form of leucinosis during exchange transfusion therapy]. Ceskoslovenska pediatrie, 1987, Volume: 42, Issue:4 Topics: Exchange Transfusion, Whole Blood; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine	1987
Comparison of the catabolism of branched-chain L-amino acids in cultured human skin fibroblasts. Pediatric research, 1987, Volume: 22, Issue:5 Topics: Amino Acids, Branched-Chain; Cells, Cultured; Child; Fibroblasts; Humans; Isoleucine; Maple Syrup Urine Disease; Skin	1987
[Leucinosis: study of a case]. Arquivos de neuro-psiquiatria, 1985, Volume: 43, Issue:4 Topics: Female; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Valine	1985
[Dietetics in hereditary enzyme deficiencies]. La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1970, Feb-26, Volume: 46, Issue:10 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. Metabolism: clinical and experimental, 1972, Volume: 21, Issue:10 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)]. Medizinische Klinik, 1966, Dec-30, Volume: 61, Issue:52 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. The Biochemical journal, 1974, Volume: 144, Issue:1 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
Variant maple syrup urine disease in mother and daughter. Canadian Medical Association journal, 1973, Aug-18, Volume: 109, Issue:4 Topics: Adult; Biopsy; Carboxy-Lyases; Cells, Cultured; Chromatography, Paper; Dietary Proteins; Female; Fibroblasts; Humans; Infant; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine	1973
Determination of alpha-keto acids as silylated oximes in urine and serum by combined gas chromatography-mass spectrometry. Clinica chimica acta; international journal of clinical chemistry, 1973, Sep-14, Volume: 47, Issue:3 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. Zeitschrift fur Kinderheilkunde, 1974, Feb-11, Volume: 116, Issue:3 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
Maple syrup urine disease: coenzyme function and prenatal monitoring. Metabolism: clinical and experimental, 1974, Volume: 23, Issue:6 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. Journal of neurochemistry, 1974, Volume: 22, Issue:6 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
Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases. Journal of the neurological sciences, 1972, Volume: 15, Issue:2 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. Acta paediatrica Scandinavica, 1972, Volume: 61, Issue:1 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. Clinical chemistry, 1972, Volume: 18, Issue:5 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. The Journal of pediatrics, 1972, Volume: 81, Issue:2 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]. Revue europeenne d'etudes cliniques et biologiques. European journal of clinical and biological research, 1972, Volume: 17, Issue:2 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". Clinical genetics, 1972, Volume: 3, Issue:1 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]. Deutsche medizinische Wochenschrift (1946), 1971, Volume: 96, Issue:40 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. Journal of the American Dietetic Association, 1971, Volume: 59, Issue:4 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. Acta paediatrica Scandinavica, 1971, Volume: 60, Issue:5 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. Pediatrics, 1971, Volume: 48, Issue:5 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). Clinical biochemistry, 1971, Volume: 4, Issue:2 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. The American journal of medicine, 1970, Volume: 49, Issue:1 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]. La Pediatria, 1970, Jul-30, Volume: 78, Issue:3 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]. Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6 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
The configuration of the alloisoleucine present in maple syrup urine disease plasma. Biochemical medicine, 1970, Volume: 4, Issue:3 Topics: Chemical Phenomena; Chemistry; Chromatography, Gas; Humans; Isoleucine; Maple Syrup Urine Disease; Stereoisomerism	1970
[On the clinical picture and pathological anatomy of the maple syrup disease ("branded chain ketoaciduria"). Report on 2 cases in 1 family]. Deutsche medizinische Wochenschrift (1946), 1968, May-03, Volume: 93, Issue:18 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
[Biochemical-genetic studies in maple syrup disease]. Die Medizinische Welt, 1968, Volume: 49 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. Developmental medicine and child neurology, 1969, Volume: 11, Issue:4 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. Journal of neurochemistry, 1969, Volume: 16, Issue:7 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. Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:4 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
Oxidation of leucine, isoleucine and related ketoacids in developing rabbit brain. Journal of neurochemistry, 1965, Volume: 12, Issue:12 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)]. Die Medizinische Welt, 1966, May-07, Volume: 19 Topics: Child; Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Valine	1966