isoleucine and Amino Acid Metabolism Disorders, Inborn

isoleucine has been researched along with Amino Acid Metabolism Disorders, Inborn in 94 studies

Research

Studies (94)

Timeframe	Studies, this research(%)	All Research%
pre-1990	53 (56.38)	18.7374
1990's	18 (19.15)	18.2507
2000's	14 (14.89)	29.6817
2010's	8 (8.51)	24.3611
2020's	1 (1.06)	2.80

Authors

Authors	Studies
Baker, PR; Bernstein, LE; Burns, C; Drumm, M; Gaughan, S; Sailer, M	1
Balcı, MC; Berg, V; Christoph Korenke, G; Çoker, M; Das, AM; Demirkol, M; Derks, TGJ; Fukao, T; Gemperle-Britschgi, C; Gökçay, G; Grünert, SC; Konstantopoulou, V; Lotz-Havla, AS; Sass, JO; Schlatter, SM; Schlune, A; Schmitt, RN; Schwab, KO; Staufner, C; Tran, C; Uçar, SK; Visser, G	1
Feng, Z; Li, X; Lin, R; Liu, L; Sheng, H; Su, L	1
Manoli, I; Myles, JG; Venditti, CP	1
Brandon, P; Constance, LSL; Rajan, D	1
Chen, G; Hajnal, A; Lynch, CJ; Olson, KC; Xu, Y	1
Acquaviva-Bourdain, C; Benoist, JF; Bourillon, A; de Lonlay, P; Dobbelaere, D; Elmaleh-Bergès, M; Fouilhoux, A; Guffon, N; Labarthe, F; Mention, K; Ogier de Baulny, H; Paquay, S; Pichard, S; Rouvet, I; Schiff, M; Touati, G; Valayannopoulos, V; Vianey-Saban, C	1
Karall, D; Sass, JO; Scholl-Bürgi, S; Zschocke, J	1
Zschocke, J	1
Brandis, M; Ensenauer, R; Lehnert, W; Niederhoff, H; Ruiter, JP; Schwab, KO; Wanders, RJ	1
Besley, G; Manning, NJ; McMenamin, J; Olpin, SE; Pollitt, RJ; Ruiter, JP; Wanders, RJ	1
Andresen, BS; Berry, SA; He, M; Lussky, RC; Madsen, PP; Matern, D; Rinaldo, P; van Calcar, SC; Vockley, J; Whitley, CB; Wolff, JA	1
SCOTT, EB	1
CHILDS, B; NYHAN, WL	1
KIIL, R; ROKKONES, T	1
HOLT, LE; NORTON, PM; ROITMAN, E; SNYDERMAN, SE	1
DURAND, P; LAMEDICA, GM; MARTINO, AM	1
Fukao, T; Hazama, A; Kohno, Y; Kondo, M; Kondo, N; Kubo, T; Matsuo, N; Sakura, N; Shigematsu, Y; Yamaga, H; Yamaguchi, S; Zhang, GX	1
Forstner, R; Sass, JO; Sperl, W	1
Barth, PG; Duran, M; Majoie, CB; Ofman, R; Poll-The, BT; Ruiter, JP; Wanders, RJ	1
Beseler, B; Dalmau, J; García-Silva, MT; García-Villoria, J; Merinero, B; Ofman, R; Perez-Cerda, C; Ramos, J; Ribes, A; Sala, PR; Ugarte, M; Wanders, RJ	1
He, XY; Yang, SY	1
Korman, SH	1
Dong, GP; Liang, L; Zhan, JY	1
Andresen, BS; Engel, K; Ensenauer, R; Häberle, J; Lehnert, W; Mégarbané, A; Reich, H; Röschinger, W; Sass, JO; Schirrmacher, O; Steuerwald, U; Zschocke, J	1
Efron, ML	1
Edelmann, CM; Finberg, L; Soriano, JR; Taitz, LS	1
Efron, ML; Mechanic, GL; Shih, VE	1
Arakawa, T; Dancis, J; Hutzler, J; Morikawa, T; Tada, K; Wada, Y	1
Bartlett, K; Middleton, B	1
Cherruau, B; Demelier, JF; Lemonnier, A; Mangeot, M; Sacquet, E	1
Bardet, J; Coudé, FX; Grimber, G; Parvy, P; Pham Dinh, D; Saudubray, JM	1
Bruinvis, L; Duran, M; Kamerling, JP; Ketting, D; Schutgens, RB; Wadman, SK	1
Li, JB; Wassner, SJ	1
Bensch, KG; Kott-Blumenkranz, R; Pappas, CT	1
Bennett, MJ; Gibson, KM; Holmes, B; Lee, CF; Nyhan, WL	1
Bennett, MJ; Gibson, KM; Powell, S; Swartling, DJ	1
Endo, F; Hoshide, R; Ishikawa, K; Kato, I; Kiwaki, K; Koike, E; Komaki, S; Matsuura, T; Oyanagi, K; Suzuki, Y	1
De Meirleir, L; De Raeve, L; Gerlo, E; Ramet, J; Vandenplas, Y	1
Søvik, O	1
Bennett, MJ; Elpeleg, ON; Gibson, KM	1
Aoyanagi, N; Fukao, T; Kodama, A; Kondo, N; Kuhara, T; Matsumoto, I; Orii, T; Song, XQ; Tsukino, R; Uemura, S; Watanebe, H	1
Berrios, M; Crawford, D; Frieden, IJ; Goodman, SI; Hart, K; Howard, R; Levy, ML; McCalmont, T; Ohnstad, C; Packman, S; Rosenblatt, DS; Sweetman, L	1
Wada, Y	1
Yoshida, I	1
Fukuyama, Y; Hirayama, H; Ishikawa, Y; Li Wei, K; Nozawa, T	1
Aikoh, H; Sasaki, M; Sugai, K; Tunnessen, WW; Yoshida, H	1
Bennett, MJ; Bonafè, L; Burlina, AB; Gibson, KM; Ruitenbeek, W	1
Burlingame, TG; Gibson, KM; Hogema, B; Jakobs, C; Kiss, D; Linck, L; Millington, D; Pohowalla, P; Rinaldo, P; Roe, CR; Roe, DS; Sacks, M; Schutgens, RB; Steiner, RD; Sweetman, L; Vockley, J	1
Andresen, BS; Bross, P; Christensen, E; Corydon, TJ; Gregersen, N; Knudsen, I; Pilgaard, B; Ruiter, JP; Schroeder, LD; Simonsen, H; Skovby, F; Wanders, RJ; Winter, V	1
Brand, J; Hoffmann, GF; Lindner, M; Mayatepek, E; Ruiter, JP; Wanders, RJ; Zschocke, J	1
Porath, U; Schreier, K	1
Bresnan, MJ; Levy, HL; Pueschel, SM; Shih, VE	1
de Cespedes, C; Estrada, Y; Loria, AR; Nyhan, WL; Sweetman, L	1
Bachmann, C; Baumgartner, R; Bremer, HJ; Bruinvis, L; Duran, M; Irle, U; Ketting, D; Przyrembel, H; Wadman, SK	1
Ichihara, A	1
Batshaw, M; Brusilow, S; Kulovich, S; Nyhan, W; Spector, E; Thoene, J; Walser, M	1
Collombel, C; Cotton, JB; Divry, P; Guibaud, P; Larbre, F; Marcon, G	1
Grüttner, R; Held, KR; Plettner, C; Singh, S; Sternowsky, HJ	1
John, SW; Laframboise, R; Rozen, R; Scriver, CR	1
Bardet, J; Kamoun, P; Parvy, P; Rabier, D; Saudubray, JM	1
Miller, JB; Qu, Y; Shapira, E; Slocum, RH	1
Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M	1
Gibson, KM; Iden, P; Middleton, B; Robinson, BH; Sherwood, WG; Sweetman, L; Søvik, O	1
Brown, GK; Danks, DM; Hunt, SM; Mitchell, DK	1
Berger, H; Simma, B; Sperl, W	1
Bartlett, K; Halliday, D; Leonard, JV; Thompson, GN; Walter, JH	1
Daum, RS; Lamm, PH; Mamer, OA; Scriver, CR	1
Royer, P	1
Brissaud, HE	1
Hillman, RE; Otto, EF	2
Baños, G; Daniel, PM; Moorhouse, SR; Pratt, OE	1
Bartlett, K; Charpentier, C; Draffan, GH; Gompertz, D; Goodey, PA; Saudubray, JM	1
Mamer, OA; Tjoa, SS	1
Feigin, RD; Hillman, RE; Keating, JP; Tenenbaum, SM	1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M	1
Daum, RS; Delvin, E; Goldman, H; Lamm, P; Mamer, OA; Scriver, CR	1
Johnson, KR; Payne, RB	1
Cohen, JL; Hillman, RE; Sowers, LH	1
Hillman, RE; Keating, JP	1
Hart, ZH; Krieger, I	1
Lee, DJ	1
Hagberg, B; Hambraeus, L; Westphal, O	1
Cloup, M; Fournet, JP; Saudubray, JM	1
Aymard, P; Brissaud, HE; Costil, J; Repesse, G; Richardet, JM	1
Isselbacher, KJ; Miller, EM; Tanaka, K	1
Hsia, YE; Lilljeqvist, AC; Rosenberg, LE	1
Albert, J; Collombel, C; David, M; Guerrier, G; Guibaud, P; Jeune, M; Michel, M	1
Helger, R; Kraffczyk, F; Lang, H	1
Barness, LA; Morrow, G	1
Gross, S; Maskaleris, ML; Milhorat, AT	1
Culley, WJ	1

Reviews

12 review(s) available for isoleucine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias. Current opinion in clinical nutrition and metabolic care, 2018, Volume: 21, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Deficiency Diseases; Diet, Protein-Restricted; Foods, Specialized; Homocystinuria; Humans; Isoleucine; Leucine; Propionic Acidemia; Valine; Vitamin B 12 Deficiency	2018
Amino acid metabolism in patients with propionic acidaemia. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Citric Acid Cycle; Diet; Glutamine; Glycine; Humans; Isoleucine; Lysine; Methylmalonyl-CoA Decarboxylase; Models, Biological; Propionic Acidemia; Urea; Valine	2012
HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Family Health; Female; Heterozygote; Humans; Infant; Infant, Newborn; Isoleucine; Male; Models, Genetic; Mutation	2012
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics, 2003, Volume: 112, Issue:1 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Diagnosis, Differential; Diet, Protein-Restricted; DNA Mutational Analysis; Ethnicity; Exons; Female; Genetic Testing; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Male; Mass Spectrometry; Neonatal Screening; Oxidoreductases Acting on CH-CH Group Donors; Sequence Deletion; Treatment Outcome	2003
Roles of type 10 17beta-hydroxysteroid dehydrogenase in intracrinology and metabolism of isoleucine and fatty acids. Endocrine, metabolic & immune disorders drug targets, 2006, Volume: 6, Issue:1 Topics: 17-Hydroxysteroid Dehydrogenases; 3-Hydroxyacyl CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Androgens; Animals; Estrogens; Fatty Acids; Humans; Isoleucine; Mitochondria; Molecular Sequence Data; Neurotransmitter Agents	2006
Inborn errors of isoleucine degradation: a review. Molecular genetics and metabolism, 2006, Volume: 89, Issue:4 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acetyltransferase; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Humans; Isoleucine; Oxidoreductases Acting on CH-CH Group Donors	2006
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:1 Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Humans; Isoleucine; Ketone Bodies; Mitochondria	1993
Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. Archives of dermatology, 1997, Volume: 133, Issue:12 Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Biopsy; Cheilitis; Female; Humans; Infant, Newborn; Isoleucine; Methylmalonic Acid; Skin; Skin Diseases, Metabolic; Valine; Vitamin B 12 Deficiency	1997
[Hyperleucinisoleucinemia]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Isoleucine; Leucine; Prognosis	1998
[2-Methylbranched chain acyl-CoA-dehydrogenase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Isoleucine; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Prognosis; Valine	1998
[Congenital metabolic acidosis in the postnatal period]. Deutsche medizinische Wochenschrift (1946), 1978, Jun-02, Volume: 103, Issue:22 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Glutarates; Glycogen Storage Disease Type I; Humans; Hyperglycemia; Infant, Newborn; Isoleucine; Ketosis; Lactates; Leucine; Leukoencephalitis, Acute Hemorrhagic; Methylmalonic Acid; Propionates; Syndrome; Thiamine; Valerates; Valine	1978
[Physiological chemistry of branched chain amino acids (author's transl)]. Seikagaku. The Journal of Japanese Biochemical Society, 1975, Volume: 47, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Animals; Cell Division; Cell Transformation, Neoplastic; Isoleucine; Leucine; Rats; Transaminases; Valine	1975

Other Studies

82 other study(ies) available for isoleucine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Impact on Isoleucine and Valine Supplementation When Decreasing Use of Medical Food in the Nutritional Management of Methylmalonic Acidemia. Nutrients, 2020, Feb-13, Volume: 12, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Dietary Supplements; Enteral Nutrition; Female; Humans; Infant; Isoleucine; Male; Retrospective Studies; Treatment Outcome; Valine	2020
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Molecular genetics and metabolism, 2017, Volume: 122, Issue:1-2 Topics: Acetyl-CoA C-Acetyltransferase; Acetyl-CoA C-Acyltransferase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Consanguinity; Fatty Acids; Female; Genetic Association Studies; Humans; Infant; Infant, Newborn; Isoleucine; Ketone Bodies; Male; Mutation; Neonatal Screening; Prognosis; Retrospective Studies; Young Adult	2017
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene. Metabolic brain disease, 2017, Volume: 32, Issue:6 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acetyltransferase; Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; China; Diagnosis, Differential; Dyskinesias; Epilepsy; Female; Humans; Infant; Isoleucine; Male; Mental Retardation, X-Linked; Models, Molecular; Mutation; Retrospective Studies	2017
Beta-ketothiolase deficiency in a Malaysian infant. The Medical journal of Malaysia, 2019, Volume: 74, Issue:2 Topics: Acetyl-CoA C-Acetyltransferase; Acetyl-CoA C-Acyltransferase; Adolescent; Amino Acid Metabolism, Inborn Errors; Humans; Isoleucine; Ketosis; Male; Sepsis	2019
Alloisoleucine differentiates the branched-chain aminoacidemia of Zucker and dietary obese rats. Obesity (Silver Spring, Md.), 2014, Volume: 22, Issue:5 Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Adipose Tissue; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Liquid; Diet, High-Fat; Isoleucine; Male; Obesity; Rats; Rats, Zucker	2014
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:3 Topics: Acetyl-CoA C-Acetyltransferase; Acetyl-CoA C-Acyltransferase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Basal Ganglia; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Isoleucine; Ketone Bodies; Ketosis; Male; Mitochondria; Neonatal Screening; Retrospective Studies; Young Adult	2017
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. Annals of neurology, 2002, Volume: 51, Issue:5 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Isoleucine; Male	2002
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:6 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biomarkers; Electroencephalography; Electron Transport; Gas Chromatography-Mass Spectrometry; Humans; Isoleucine; Male; Phenotype; Psychomotor Performance; Tomography, X-Ray Computed	2002
Histopathology of amino acid deficiencies. V. Isoleucine. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1956, Volume: 92, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Endocrine Glands; Isoleucine; Leucine; Liver	1956
FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA. Pediatrics, 1964, Volume: 33 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Blood; Child; Diet; Diet Therapy; Glycine; Humans; Infections; Isoleucine; Leucine; Leukocyte Count; Methionine; Renal Aminoacidurias; Threonine; Toxicology; 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
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
[LEUCINOSIS: A VARIANT OF BRANCHED-CHAIN KETO-ACIDURIA]. Pediatrie, 1965, Volume: 20 Topics: Acid-Base Imbalance; Amino Acid Metabolism, Inborn Errors; Child; Humans; Isoleucine; Keto Acids; Leucine; Urine	1965
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. Journal of inherited metabolic disease, 2003, Volume: 26, Issue:5 Topics: Acetoacetates; Acetyl-CoA C-Acetyltransferase; Amino Acid Metabolism, Inborn Errors; Carnitine; Humans; Hydroxybutyrates; Infant; Isoleucine; Ketone Bodies; Male; Mitochondria; Mutation	2003
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. Brain & development, 2004, Volume: 26, Issue:1 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; Humans; Hydroxybutyrates; Infant; Infant, Newborn; Isoleucine; Magnetic Resonance Imaging; Neurodegenerative Diseases	2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. Molecular genetics and metabolism, 2004, Volume: 81, Issue:4 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Abnormalities, Multiple; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Cerebral Palsy; Diagnosis, Differential; DNA Mutational Analysis; Humans; Hypoxia; Infant; Infant, Newborn; Isoleucine; Leukomalacia, Periventricular; Magnetic Resonance Imaging; Male; Mutation	2004
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatric research, 2005, Volume: 58, Issue:3 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Chromosomes, Human, X; Female; Genetic Linkage; Humans; Infant; Infant, Newborn; Isoleucine; Male; Mitochondrial Diseases	2005
[A case of beta-ketothiolase deficiency]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2006, Volume: 44, Issue:9 Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant; Isoleucine; Male	2006
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Molecular genetics and metabolism, 2008, Volume: 93, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Butyryl-CoA Dehydrogenase; Cells, Cultured; Child; Child, Preschool; Female; Genotype; Glycine; Humans; Infant; Isoleucine; Male; Metabolism; Valerates	2008
Isovaleric acidemia. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Gas; Fatty Acids; Female; Humans; Infant; Intellectual Disability; Isoleucine; Leucine; Male; Valine	1967
Hyperglycinemia with ketoacidosis and leukopenia. Metabolic studies on the nature of the defect. Pediatrics, 1967, Volume: 39, Issue:6 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Diet Therapy; Dietary Proteins; Glycine; Humans; Infant; Isoleucine; Leucine; Leukopenia; Lysine; Male; Valine	1967
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease. Analytical biochemistry, 1967, Volume: 20, Issue:2 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; Chromatography, Ion Exchange; Citrates; Cysteine; Cystine; Glutamates; Glutamine; Glycine; Humans; Hydrogen-Ion Concentration; Hydroxyproline; Isoleucine; Phenylalanine; Proline; Sarcosine; Serine; Threonine; Tyrosine; Valine	1967
Hypervalinemia. A defect in valine transamination. Pediatrics, 1967, Volume: 39, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carbon Isotopes; Child, Preschool; Female; Fetal Diseases; Humans; Intellectual Disability; Isoleucine; Japan; Keto Acids; Leucine; Leukocytes; Methionine; Phenylalanine; Placenta; Pregnancy; Transaminases; Valine	1967
The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria. Clinica chimica acta; international journal of clinical chemistry, 1983, Mar-14, Volume: 128, Issue:2-3 Topics: Acetoacetates; Acetyl-CoA C-Acetyltransferase; Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Fibroblasts; Humans; Hydroxybutyrates; Isoleucine	1983
[Biotin deficiency in the germ-free rat and propionic acidemia]. Annals of nutrition & metabolism, 1983, Volume: 27, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Carboxy-Lyases; Germ-Free Life; Isoleucine; Liver; Methylmalonyl-CoA Decarboxylase; Propionates; Rats; Rats, Inbred F344	1983
Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation. Biochemical and biophysical research communications, 1983, Jul-18, Volume: 114, Issue:1 Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cells, Cultured; Fibroblasts; Genetic Complementation Test; Humans; Isoleucine; Leucine; Metabolism, Inborn Errors; Mutation; Skin	1983
The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia. Biomedical mass spectrometry, 1982, Volume: 9, Issue:1 Topics: Acetyl-CoA C-Acyltransferase; Acyl Coenzyme A; Acyltransferases; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Glutarates; Glycine; Humans; Isoleucine; Malonates; Methylmalonic Acid; Propionates; Reference Values	1982
High-performance liquid chromatographic separation of six essential amino acids and its use as an aid in the diagnosis of branched-chain ketoaciduria. Journal of chromatography, 1982, Feb-12, Volume: 227, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Chromatography, High Pressure Liquid; Female; Humans; Infant, Newborn; Isoleucine; Keto Acids; Leucine; Peritoneal Dialysis; Phenylalanine; Time Factors; Valine	1982
A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia. Human pathology, 1981, Volume: 12, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Cells, Cultured; Endoplasmic Reticulum; Humans; Infant, Newborn; Isoleucine; Methylmalonyl-CoA Decarboxylase; Mitochondria, Heart; Mitochondria, Liver; Mitochondria, Muscle; Propionates; Skin	1981
Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism? Journal of inherited metabolic disease, 1993, Volume: 16, Issue:3 Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Fibroblasts; Humans; Hydroxybutyrate Dehydrogenase; Isoleucine; Male; Malonate-Semialdehyde Dehydrogenase (Acetylating); Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Valine	1993
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS. Clinical chemistry, 1994, Volume: 40, Issue:10 Topics: Acetyl-CoA C-Acyltransferase; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Electron Transport; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Infant; Infant, Newborn; Isoleucine	1994
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency. Human mutation, 1994, Volume: 3, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Base Sequence; DNA Mutational Analysis; DNA Primers; DNA, Single-Stranded; Glycine; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Male; Methionine; Molecular Epidemiology; Molecular Sequence Data; Nucleic Acid Conformation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Tryptophan; X Chromosome	1994
Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria. The Journal of pediatrics, 1994, Volume: 124, Issue:3 Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Male; Methylmalonic Acid; Microscopy, Electron; Propionates; Skin; Valine	1994
beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel. Journal of inherited metabolic disease, 1996, Volume: 19, Issue:5 Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Consanguinity; Female; Fibroblasts; Humans; Infant; Isoleucine; Israel; Ketone Bodies	1996
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clinical genetics, 1996, Volume: 50, Issue:4 Topics: Acetyl-CoA C-Acyltransferase; Acidosis; Amino Acid Metabolism, Inborn Errors; Cell Line, Transformed; Child; Coenzyme A-Transferases; Consanguinity; Glycine; Humans; Infant, Newborn; Isoleucine; Japan; Ketone Bodies; Lymphocytes; Male; Nuclear Family	1996
A new method for evaluation and dietary therapy of congenital: deficiencies of amino acid metabolic enzymes. Linear system analysis and optimization of feedback inputs for the metabolic pathways of lysine, methionine and isoleucine. Bio Systems, 1998, Volume: 45, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Enzymes; Evaluation Studies as Topic; Feedback; Humans; Isoleucine; Lysine; Methionine; Methods; Models, Theoretical	1998
Picture of the month. Cutaneous lesions associated with isoleucine deficiency. Archives of pediatrics & adolescent medicine, 1998, Volume: 152, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Exanthema; Humans; Infant; Isoleucine; Male; Methylmalonic Acid	1998
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:8 Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Dicarboxylic Acids; Energy Metabolism; Fibroblasts; Fumarates; Humans; Infant; Isoleucine; Malates; Male; Neurodegenerative Diseases; Phenotype; Succinic Acid	1998
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatric research, 2000, Volume: 47, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Carnitine; DNA Primers; DNA, Complementary; Female; Humans; Infant; Isoleucine; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pregnancy; Prenatal Diagnosis	2000
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metab American journal of human genetics, 2000, Volume: 67, Issue:5 Topics: Alternative Splicing; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Child, Preschool; Consanguinity; COS Cells; DNA Mutational Analysis; Enzyme Stability; Exons; Female; Heterozygote; Humans; Introns; Isoleucine; Male; Mitochondria; Mutation; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pakistan; Protein Transport; Sequence Deletion; Transfection; Valine	2000
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatric research, 2000, Volume: 48, Issue:6 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Disease Progression; Fatty Acids; Hemophilia A; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Lipid Metabolism, Inborn Errors; Male; Mitochondria; Neurodegenerative Diseases; Oxidation-Reduction; Psychomotor Agitation; Seizures	2000
Thiamine-responsive intermittent branched-chain ketoaciduria. The Journal of pediatrics, 1979, Volume: 94, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Child, Preschool; Dietary Proteins; Humans; Isoleucine; Keto Acids; Leucine; Male; Thiamine; Valine	1979
The diagnosis and management of propionic acidemia. Monographs in human genetics, 1978, Volume: 9 Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Isoleucine; Male; Methionine; Propionates; Threonine; Valine	1978
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels. European journal of pediatrics, 1979, Jan-18, Volume: 130, Issue:1 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Child; Female; Fibroblasts; Humans; Intellectual Disability; Isoleucine; Muscle Spasticity; Paraplegia	1979
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids. The Journal of pediatrics, 1977, Volume: 90, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginine; Argininosuccinate Synthase; Citrulline; Fibroblasts; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Lysine; Male; Methionine; Phenylalanine; Threonine; Tryptophan; Valine	1977
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
[A form of late propionic acidemia]. Archives francaises de pediatrie, 1975, Volume: 32, Issue:3 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Blood Glucose; Child, Preschool; Coma; Dietary Proteins; Female; Humans; Isoleucine; Leucine; Male; Neurologic Manifestations; Propionates	1975
[Intermittent branched--chain ketoacidurie in ketotic hypoglycemia: investigations to localize the biochemical defect (author's transl)]. Monatsschrift fur Kinderheilkunde, 1976, Volume: 124, Issue:2 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child; Female; Fibroblasts; Humans; Hypoglycemia; Intellectual Disability; Isoleucine; Keto Acids; Ketosis; Leucine; Leukocytes; Valine	1976
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. Human mutation, 1992, Volume: 1, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Cell Line; Codon; Exons; Female; France; Genotype; Humans; Isoleucine; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Pedigree; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Polymerase Chain Reaction; Quebec; Threonine; Transfection	1992
Alloisoleucine in isovaleric acidaemia. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:1 Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acid Metabolism, Inborn Errors; Child, Preschool; Hemiterpenes; Humans; Infant; Isoleucine; Ketone Oxidoreductases; Multienzyme Complexes; Pentanoic Acids	1992
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
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
3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency. Pediatric research, 1990, Volume: 28, Issue:5 Topics: Acetyl-CoA C-Acyltransferase; Amino Acid Metabolism, Inborn Errors; Butyrates; Cells, Cultured; Female; Fibroblasts; Humans; Infant; Isoleucine; Male; Skin	1990
Profound neurological illness, relieved by protein restriction, in a baby with a transient disturbance in the metabolism of ingested isoleucine. European journal of pediatrics, 1987, Volume: 146, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Developmental Disabilities; Dietary Proteins; Epilepsy; Female; Humans; Infant; Isoleucine; Muscle Hypotonia; Nervous System Diseases	1987
[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
Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia. Lancet (London, England), 1989, Jun-10, Volume: 1, Issue:8650 Topics: Acyl Coenzyme A; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Humans; Isoleucine; Kinetics; Leucine; Malonates; Methionine; Methylmalonic Acid; Phenylalanine; Threonine; Time Factors; Valine	1989
A "new" disorder of isoleucine catabolism. Lancet (London, England), 1971, Dec-11, Volume: 2, Issue:7737 Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Child; Genes, Recessive; Humans; Hydroxybutyrates; Isoleucine; Male	1971
[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
[Dietetics of amino acid metabolism disorders]. La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1971, Feb-08, Volume: 47, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isoleucine; Leucine; Phenylketonurias; Tryptophan; Tyrosine; Valine	1971
Isoleucine transport by cultured human fibroblasts. II. Selection of a cell line with reduced isoleucine uptake. Biochimica et biophysica acta, 1974, Oct-10, Volume: 367, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Carbon Radioisotopes; Cell Division; Cell Line; Culture Media; Cyanides; Fibroblasts; Humans; Isoleucine; Kinetics; Ouabain; Sodium; Time Factors	1974
Inhibition of entry of some amino acids into the brain, with observations on mental retardation in the aminoacidurias. Psychological medicine, 1974, Volume: 4, Issue:3 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Biological Transport, Active; Brain; Caproates; Carbon Radioisotopes; Depression, Chemical; Drug Interactions; Humans; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Rats; Rats, Inbred Strains; Stimulation, Chemical; Threonine	1974
A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. Clinica chimica acta; international journal of clinical chemistry, 1974, Dec-17, Volume: 57, Issue:3 Topics: Acetoacetates; Adolescent; Amino Acid Metabolism, Inborn Errors; Avidin; Butyrates; Carbon Radioisotopes; Child; Chromatography, Gas; Coenzyme A; Female; Glycine; Humans; Hydroxybutyrates; Isoleucine; Leukocytes; Male; Mass Spectrometry; Propionates; Time Factors; Tritium	1974
2-Ethylhydracrylic acid: a newly described urinary organic acid. Clinica chimica acta; international journal of clinical chemistry, 1974, Sep-16, Volume: 55, Issue:2 Topics: Acyltransferases; Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Coenzyme A; Humans; Hydroxy Acids; Hydroxybutyrates; Isoleucine; Keto Acids; Malonates; Mass Spectrometry; Valerates	1974
Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report. Pediatrics, 1972, Volume: 50, Issue:6 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Diet Therapy; Dietary Proteins; Female; Fibroblasts; Glycine; Humans; Infant; Isoleucine; Syndrome	1972
Amino acid abnormality in Sjögren-Larsson syndrome. Archives of neurology, 1973, Volume: 28, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine	1973
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. Pediatric research, 1973, Volume: 7, Issue:3 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Butyrates; Cells, Cultured; Child; Child, Preschool; Chromatography, Gas; Chromatography, Paper; Chromatography, Thin Layer; Female; Fibroblasts; Glycine; Humans; Hydroxybutyrates; Infant; Isoleucine; Keto Acids; Ketones; Male; Mass Spectrometry; Mutation; Pedigree; Phenotype; Skin; Valerates	1973
Bogus branched-chain aminoaciduria. Journal of clinical pathology, 1973, Volume: 26, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Culture Media; False Positive Reactions; Humans; Isoleucine; Leucine; Valine	1973
Inhibition of glycine oxidation in cultured fibroblasts by isoleucine. Pediatric research, 1973, Volume: 7, Issue:12 Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Cells, Cultured; Fibroblasts; Glycine; Isoleucine; Metabolism, Inborn Errors; Oxidation-Reduction	1973
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". Pediatrics, 1974, Volume: 53, Issue:2 Topics: Acetoacetates; Acidosis; Acyltransferases; Amino Acid Metabolism, Inborn Errors; Butanones; Carbon Radioisotopes; Child; Chromatography, Thin Layer; Coenzyme A; Dinitrophenols; Fibroblasts; Glycine; Humans; Hydrazones; Hydroxybutyrates; Isoleucine; Malonates; Propionates	1974
Transport of L-isoleucine by cultured human fibroblasts. Uptake by normal cell lines and isolation of a cell line lacking sodium-dependent uptake. The Journal of biological chemistry, 1974, Jun-10, Volume: 249, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport, Active; Carbon Radioisotopes; Cell Line; Computers; Culture Media; Cyanides; Diploidy; Fibroblasts; Humans; Isoleucine; Kinetics; Leucine; Ouabain; Skin; Sodium	1974
Valine-sensitive nonketotic hyperglycinemia. Case report. The Journal of pediatrics, 1974, Volume: 85, Issue:1 Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Benzoates; Brain Diseases; Brain Stem; Carbon Dioxide; Carbon Radioisotopes; Chromatography; Coma; Diet Therapy; Drug Hypersensitivity; Electroencephalography; Female; Glycine; Humans; Hydroxyproline; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Isoleucine; Valine	1974
The effect of a single oral dose of lysine or arginine on the excretion of free amino acids by the starved laying hen. British poultry science, 1972, Volume: 13, Issue:2 Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Chickens; Female; Glycine; Histidine; Isoleucine; Lysine; Ornithine; Serine; Starvation; Time Factors; Tyrosine	1972
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
[Value of peritoneal dialysis in the emergency treatment of metabolic diseases of constitutional origin revealed in the neonatal period]. Annales de medecine interne, 1971, Volume: 122, Issue:12 Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Blood Proteins; Diet Therapy; Female; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Leucine; Male; Malonates; Metabolism, Inborn Errors; Neurologic Manifestations; Peritoneal Dialysis; Prognosis; Respiration, Artificial	1971
[Acute leucinosis, normal psychomotor development at one year of age]. Annales de medecine interne, 1971, Volume: 122, Issue:12 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Diet Therapy; Electroencephalography; Female; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Leucine; Neurologic Manifestations; Peritoneal Dialysis; Protein Deficiency; Psychomotor Disorders; Valine	1971
Hypoglycin A: a specific inhibitor of isovaleryl CoA dehydrogenase. Proceedings of the National Academy of Sciences of the United States of America, 1971, Volume: 68, Issue:1 Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Butyrates; Caproates; Carbon Dioxide; Carbon Isotopes; Carnitine; Chromatography, Gas; Coenzyme A; Cyclopropanes; In Vitro Techniques; Isoleucine; Leucine; Male; Oxidoreductases; Plant Poisoning; Rats; Valerates; Vomiting	1971
Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12. Pediatrics, 1970, Volume: 46, Issue:4 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Coenzyme A; Diet Therapy; Dietary Proteins; Humans; Isoleucine; Ketones; Leucine; Leukocytes; Male; Malonates; Methionine; Nutritional Requirements; Propionates; Threonine; Valine; Vitamin B 12	1970
[Hyperleucinisoleucinemia due to partial transamination defect associated with type 2 hyperprolinemia. Familial case of double aminoacidopathy]. Annales de pediatrie, 1970, Feb-02, Volume: 17, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Auditory Cortex; Child, Preschool; Deafness; Electroencephalography; Evoked Potentials; Female; Humans; Infant; Isoleucine; Leucine; Leukocytes; Male; Proline; Retinal Degeneration; Transaminases	1970
Simplified thin layer chromatography screening test for detection of important hyperaminoacidemias. Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 31, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Thin Layer; Humans; Isoleucine; Leucine; Mass Screening; Methionine; Methods; Phenylalanine; Tyrosine; Valine	1971
Studies in a patient with methylmalonic acidemia. The Journal of pediatrics, 1969, Volume: 74, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Diet; Dietary Proteins; Glycine; Humans; Infant; Infant, Newborn; Intellectual Disability; Isoleucine; Isomerases; Leucine; Male; Malonates; Valine; Vitamin B 12	1969
Urinary amino acid and peptide excretion patterns in patients with muscular dystrophy (Duchenne). A preliminary study with the autoanalyzer. Clinical chemistry, 1969, Volume: 15, Issue:7 Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Autoanalysis; Child; Child, Preschool; Glutamates; Glycine; Histidine; Humans; Isoleucine; Leucine; Lysine; Male; Muscular Dystrophies; Peptides; Phenylalanine; Serine; Threonine; Tyrosine; Valine	1969
A rapid and simple thin-layer chromatographic method for amino acids in blood. Clinical chemistry, 1969, Volume: 15, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Protein Disorders; Cellulose; Chromatography, Paper; Chromatography, Thin Layer; Humans; Infant; Isoleucine; Leucine; Mass Screening; Methods; Time Factors; Tyrosine; Valine	1969