valine and Amino Acid Metabolism Disorders, Inborn

valine has been researched along with Amino Acid Metabolism Disorders, Inborn in 84 studies

Research

Studies (84)

Timeframe	Studies, this research(%)	All Research%
pre-1990	59 (70.24)	18.7374
1990's	10 (11.90)	18.2507
2000's	3 (3.57)	29.6817
2010's	6 (7.14)	24.3611
2020's	6 (7.14)	2.80

Authors

Authors	Studies
Al-Hertani, W; Donati, MA; Ferdinandusse, S; Fung, E; Koster, J; Marquardt, T; Pasquini, E; Reeves, M; Rombough, C; Ruiter, JPN; Sasarman, F; Sass, JO; Sinasac, DS; Sparkes, R; Voit, R; Wanders, RJA; Waterham, HR	1
Cances, C; Damaj, L; de Lonlay, P; Doummar, D; Espil, C; Fluss, J; François-Heude, MC; Kern, I; Lebigot, E; Leboucq, N; Lenaers, G; Meyer, P; Munnich, A; Roubertie, A; Roze, E; Spitz, MA; Torre, S; Touati, G; Warde, MTA	1
Baker, PR; Bernstein, LE; Burns, C; Drumm, M; Gaughan, S; Sailer, M	1
Alodaib, A; Basu, S; Dobrowolski, SF; Holecko, M; Karunanidhi, A; Lichter-Konecki, U; Pappan, KL; Vockley, J	1
Aguilera-Albesa, S; Aldamiz-Echevarría, L; Arranz, A; Artuch, R; Baide-Mairena, H; Carrozzo, R; Correa-Vela, M; Del Toro, M; Delgado, I; Dionisi-Vici, C; Galosi, S; González-Gutiérrez-Solana, L; Leuzzi, V; López-Laso, E; Macaya, A; Marcé-Grau, A; Marti-Sanchez, L; Martinelli, D; Ortigoza-Escobar, JD; Pérez-Dueñas, B; Pérez-Gay, L; Pollini, L; Pons, R; Ribes, A; Rizzo, C; Roelens, F; Sánchez-Montañez, Á; Semeraro, M; Sigatullina, M; Skouma, A; Tolve, M; Tort, F; Urreizti, R; Vazquez, É; Yoldi, ME	1
Biskup, S; Fobker, M; Hollenbeck, JC; Linden, M; Marquardt, T; Meyer, M; Och, U; Reunert, J; Rust, S; Sass, JO; Seelhöfer, A	1
Manoli, I; Myles, JG; Venditti, CP	1
Jia, JP; Li, CJ; Wang, XL; Xing, Y; Yang, YH	1
Boneh, A; Ferdinandusse, S; Peters, H; Pitt, J; Ruiter, JP; Wanders, RJ	1
Dalmau Serra, J; Vitoria Miñana, I	1
Duran, M; Loupatty, FJ; Wanders, RJ	1
Karall, D; Sass, JO; Scholl-Bürgi, S; Zschocke, J	1
MINAGAWA, A; MORIKAWA, T; OKAMURA, T; TADA, K; WADA, Y; YOSHIDA, T	1
CHILDS, B; NYHAN, WL	1
KIIL, R; ROKKONES, T	1
HOLT, LE; NORTON, PM; ROITMAN, E; SNYDERMAN, SE	1
EFRON, ML	2
Smith, GA	1
Edelmann, CM; Finberg, L; Soriano, JR; Taitz, LS	1
Efron, ML; Mechanic, GL; Shih, VE	1
Arakawa, T; Tada, K; Wada, Y	1
Arakawa, T; Dancis, J; Hutzler, J; Morikawa, T; Tada, K; Wada, Y	1
Brandt, NJ; Kølvraa, S; Rosleff, F	1
Greco, C; Kulovich, S; Nyhan, WL; Page, T; Sweetman, L; Trauner, DA	1
Congdon, PJ; Green, A; Haigh, D; Pollitt, RJ; Smith, R	1
Meister, A; Wellner, D	1
Briand, P; Cathelineau, L	1
Li, JB; Wassner, SJ	1
Brown, GK; Cotton, RG; Danks, DM; Fowler, K; Grimes, A; Hunt, SM; Mercer, JF; Rogers, JG; Scholem, R; Truscott, RM	1
Bennett, MJ; Gibson, KM; Holmes, B; Lee, CF; Nyhan, WL	1
De Meirleir, L; De Raeve, L; Gerlo, E; Ramet, J; Vandenplas, Y	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	4
Chambliss, KL; Gibson, KM; Gray, RG; Pollitt, RJ; Rylance, G	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
Ito, M	1
Benfield, RM; Russell, FF	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
Ichihara, A	1
Batshaw, M; Brusilow, S; Kulovich, S; Nyhan, W; Spector, E; Thoene, J; Walser, M	1
Reddi, OS; Reddy, KR; Reddy, SV	1
Mandell, R; Shih, VE; Tanaka, K	1
Armitage, IM; Hsia, YE; Lipsky, SR; Ramsdell, HS; Rosenberg, LE; Tanaka, K	1
Grüttner, R; Held, KR; Plettner, C; Singh, S; Sternowsky, HJ	1
Barshop, B; Ko, FJ; Nyhan, WL; Sweetman, L; Wolff, J	1
Carter, RJ; Parsons, HG; Snyder, FF; Unrath, M	1
Berger, H; Simma, B; Sperl, W	1
Bartlett, K; Halliday, D; Leonard, JV; Thompson, GN; Walter, JH	1
Gray, RG; Pollitt, RJ; Webley, J	1
Draffan, GH; Gompertz, D; Hull, D; Watts, JL	1
Bundgaard, L; Winther, A	1
Royer, P	1
Brissaud, HE	1
Fekete, G	1
Fateeva, EM; Nevskaia, TS	1
Frimpter, GW	1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M	1
Tomaszewski, L	1
Johnson, KR; Payne, RB	1
Molinary, SV; Tucker, HN	1
Blaton, V; Lievens-Taveirne, J; Peeters, H; Vercaemst, R	1
Hart, ZH; Krieger, I	1
Menne, F	1
Plöchl, E	1
Carson, NA	1
Hagberg, B; Hambraeus, L; Westphal, O	1
Sietti, C	1
Aymard, P; Brissaud, HE; Costil, J; Repesse, G; Richardet, JM	1
Tada, K; Takada, G	1
Hsia, YE; Lilljeqvist, AC; Rosenberg, LE	1
Helger, R; Kraffczyk, F; Lang, H	1
Gusev, EI	1
Barness, LA; Morrow, G	1
Gross, S; Maskaleris, ML; Milhorat, AT	1
Culley, WJ	1

Reviews

18 review(s) available for valine 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
AMINOACIDURIA. The New England journal of medicine, 1965, May-20, Volume: 272 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis; Glycine; Humans; Kidney; Leucine; Maple Syrup Urine Disease; Phenylketonurias; Renal Aminoacidurias; Tyrosine; Valine	1965
A survey of inborn errors of amino acid metabolism and transport in man. Annual review of biochemistry, 1981, Volume: 50 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine	1981
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
[Hypervalinemia]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Prognosis; Valine	1998
[3-Hydroxyisobutyryl-CoA deacylase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Prognosis; Thiolester Hydrolases; Valine	1998
[3-Hydroxyisobutyric aciduria (3-hydroxyisobutyric acid dehydrogenase deficiency)]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Hydroxybutyrates; Prognosis; Valine	1998
[Methylmalonic semialdehyde dehydrogenase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; beta-Alanine; Diagnosis, Differential; Humans; Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Prognosis; Valine	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
[Hypervalinemia]. Ryoikibetsu shokogun shirizu, 2001, Issue:33 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Valine	2001
[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
[Nutrition of normal and sick children]. Pediatriia, 1973, Volume: 52, Issue:11 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Humans; Infant; Infant Nutrition Disorders; Infant Nutritional Physiological Phenomena; Nutritional Physiological Phenomena; Phenylketonurias; Protein Hydrolysates; Valine	1973
Aminoacidurias due to inherited disorders of metabolism. 2. The New England journal of medicine, 1973, Oct-25, Volume: 289, Issue:17 Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; Dipeptides; Glutarates; Glycine; Histidine; Humans; Hydroxyproline; Hyperglycemia; Infant, Newborn; Keto Acids; Lysine; Malonates; Maple Syrup Urine Disease; Ornithine Carbamoyltransferase; Phosphotransferases; Proline; Sarcosine; Succinates; Urea; Valine	1973
[Feeble mindedness caused by genetic disorders of amino acid metabolism]. Hippokrates, 1968, May-31, Volume: 39, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine	1968
[Diseases of newborn infants based on inborn anomalies of metabolism. 1. Theoretical principles]. Wiener medizinische Wochenschrift (1946), 1970, Oct-10, Volume: 120, Issue:41 Topics: Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Female; Hormones; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Urea; Valine	1970
Hypervalinemia. Nutrition reviews, 1968, Volume: 26, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carbon Isotopes; Child, Preschool; Female; Growth; Haplorhini; Humans; Infant; Intellectual Disability; Keto Acids; Leukocytes; Valine; Vomiting	1968

Other Studies

66 other study(ies) available for valine and Amino Acid Metabolism Disorders, Inborn

Article	Year
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Humans; Hydroxybutyrates; Oxidoreductases; Tandem Mass Spectrometry; Valine	2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. European journal of neurology, 2022, Volume: 29, Issue:11 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Chorea; Coenzyme A; Dystonia; Dystonic Disorders; Enoyl-CoA Hydratase; Humans; Leigh Disease; Movement Disorders; Thiolester Hydrolases; Valine	2022
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, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case. Molecular genetics and metabolism, 2020, Volume: 129, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Cell Line; Female; Fibroblasts; Humans; Infant, Newborn; Metabolomics; Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Mitochondria; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Skin; Valine	2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. Journal of inherited metabolic disease, 2021, Volume: 44, Issue:2 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; Dystonia; Enoyl-CoA Hydratase; Female; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant; Internationality; Leigh Disease; Magnetic Resonance Imaging; Male; Metabolic Networks and Pathways; Mutation; Phenotype; Survival Rate; Thiolester Hydrolases; Valine	2021
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism. Journal of inherited metabolic disease, 2021, Volume: 44, Issue:6 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diagnosis, Differential; Female; Humans; Hydroxybutyrates; Infant; Male; Valine	2021
Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene. Journal of inherited metabolic disease, 2015, Volume: 38, Issue:5 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Base Sequence; Humans; Intellectual Disability; Male; Maple Syrup Urine Disease; Minor Histocompatibility Antigens; Molecular Sequence Data; Mutation, Missense; Pregnancy Proteins; Seizures; Transaminases; Valine	2015
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. Molecular genetics and metabolism, 2015, Volume: 115, Issue:4 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Child; Cysteine; Enoyl-CoA Hydratase; Female; Fibroblasts; Glutathione; Humans; Infant; Leigh Disease; Mass Screening; Mutation; Prognosis; Thiolester Hydrolases; Valine	2015
[Enteropathic acrodermatitis-like lesions in valine deficiency methylmalonic acidaemia]. Anales de pediatria (Barcelona, Spain : 2003), 2010, Volume: 72, Issue:1 Topics: Acrodermatitis; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Intestinal Diseases; Methylmalonic Acid; Valine	2010
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Animals; Enoyl-CoA Hydratase; Humans; Hydroxybutyrate Dehydrogenase; Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Mitochondria; Models, Chemical; Oxidoreductases Acting on CH-CH Group Donors; Oxygen; Thiolester Hydrolases; Valine	2012
IDIOPATHIC HYPERVALINEMIA: PROBABLY A NEW ENTITY OF INBORN ERROR OF VALINE METABOLISM. The Tohoku journal of experimental medicine, 1963, Oct-25, Volume: 81 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Blood Protein Electrophoresis; Chromatography; Chromosomes; Electroencephalography; Genetics, Medical; Hemoglobins; Infant; Proteins; Renal Aminoacidurias; Urine; Valine	1963
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
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
Experiments of nature involving branch-chain amino acids. Pediatrics, 1967, Volume: 39, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Infant; Leucine; Maple Syrup Urine Disease; Transaminases; 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. Its metabolic lesion and therapeutic approach. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Weight; Chromatography, Paper; Diet Therapy; Growth; Humans; Infant; Intellectual Disability; Pyridoxal Phosphate; 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
Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects. Journal of inherited metabolic disease, 1983, Volume: 6, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; Biological Transport, Active; Cells, Cultured; Child; Fibroblasts; Glyceric Acids; Glycine; Humans; Kinetics; Proline; Valine	1983
Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. The Journal of pediatrics, 1981, Volume: 98, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Central Nervous System Diseases; Cerebral Cortex; Female; Glycine; Humans; Infant; Infant, Newborn; Nerve Degeneration; Serine; Valine	1981
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby. Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; Humans; Hydroxybutyrates; Infant; Isomerism; Lactates; Lactic Acid; Methionine; Thymine; Valine	1981
Sparse-fur mutation: a model for some human ornithine transcarbamylase deficiencies. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Epoxy Compounds; Hair; Immunodiffusion; Male; Mice; Mice, Mutant Strains; Mitochondria, Liver; Mutation; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phosphates; Valine	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
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics, 1982, Volume: 70, Issue:4 Topics: Abnormalities, Multiple; Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Coenzyme A; Consanguinity; Cysteamine; Cysteine; Enoyl-CoA Hydratase; Humans; Infant; Male; Thiolester Hydrolases; Valine	1982
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
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
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:5 Topics: Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Base Sequence; Case-Control Studies; DNA Primers; DNA, Complementary; Exons; Female; Homozygote; Humans; Introns; Male; Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Point Mutation; Valine	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
Hypervalinemia: a family's reaction, a nursing challenge. Nursing forum, 1975, Volume: 14, Issue:2 Topics: Adaptation, Psychological; Amino Acid Metabolism, Inborn Errors; Developmental Disabilities; Female; Humans; Infant; Parent-Child Relations; Patient Care Planning; Valine	1975
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
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
A sibship with hypervalinemia. Human genetics, 1977, Nov-02, Volume: 39, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Male; Pedigree; Valine	1977
Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects. The Journal of clinical investigation, 1976, Volume: 58, Issue:1 Topics: 2-Methyl-4-chlorophenoxyacetic Acid; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Cell Line; Cells, Cultured; Depression, Chemical; Fibroblasts; Flavin-Adenine Dinucleotide; Glycine; Humans; Leucine; Maple Syrup Urine Disease; Oxidation-Reduction; Skin; Succinates; Valerates; Valine	1976
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
[13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate. Proceedings of the National Academy of Sciences of the United States of America, 1975, Volume: 72, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Child; Coenzyme A; Humans; Magnetic Resonance Spectroscopy; Male; Malonates; Methylmalonic Acid; Propionates; Valine	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
3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatric research, 1991, Volume: 30, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Hydroxybutyrates; Male; Valine	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
[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
Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts. Biochemical medicine and metabolic biology, 1987, Volume: 38, Issue:1 Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; beta-Alanine; Carbon Radioisotopes; Cells, Cultured; Fibroblasts; Humans; Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Valine	1987
Biotin-responsive beta-methylcrotonylglycinuria. Lancet (London, England), 1971, Jul-03, Volume: 2, Issue:7714 Topics: Acidosis; Administration, Oral; Amino Acid Metabolism, Inborn Errors; Biotin; Butyrates; Carbon Dioxide; Carboxy-Lyases; Chromatography, Gas; Fatty Acids; Glycine; Humans; Infant; Leucine; Male; Partial Pressure; Valerates; Valine; Vomiting	1971
Argininosuccinic aciduria in hereditary hair diseases. Acta dermato-venereologica, 1968, Volume: 48, Issue:6 Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glutamates; Glutamine; Glycine; Hair; Histidine; Humans; Infant; Lysine; Male; Middle Aged; Serine; Skin Diseases; Threonine; Tyrosine; Valine	1968
[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
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)]. Klinische Wochenschrift, 1974, May-15, Volume: 52, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Leucine; Methionine; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Valine	1974
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
[The inborn errors of metabolism of amino acids]. Postepy biochemii, 1973, Volume: 19, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine	1973
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
Gas chromatography in diagnostic biochemistry of abnormal valine metabolism. Clinical chemistry, 1973, Volume: 19, Issue:9 Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography, Gas; Chromatography, Ion Exchange; Evaluation Studies as Topic; Fasting; Humans; Infant; Infant, Newborn; Mass Spectrometry; Methods; Time Factors; Valine	1973
Screening for hyperaminoacidemias in newborns by thin-layer chromatography on DEAE-cellulose. Acta paediatrica Belgica, 1973, Volume: 27, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Belgium; Chromatography, DEAE-Cellulose; Chromatography, Thin Layer; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Mass Screening; Methods; Phenylalanine; Tyrosine; Valine	1973
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
Chemical pathology of amino acid diseases. Acta neurologica et psychiatrica Belgica, 1968, Volume: 68, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child; Child, Preschool; Female; Homocystine; Humans; Hypoglycemia; Infant; Intellectual Disability; Leucine; Male; Maple Syrup Urine Disease; Methionine; Pyridoxine; Valine	1968
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
[Paper chromatography in the detection of aminoacidopathies]. Minerva pediatrica, 1971, Dec-22, Volume: 23, Issue:51 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Glycine; Histidine; Humans; Maple Syrup Urine Disease; Phenylketonurias; Valine	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
Incorporation of 14C-leucine into brain protein in rats with hyperaminoacidemia. The Tohoku journal of experimental medicine, 1970, Volume: 102, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Autoanalysis; Brain; Carbon Isotopes; Female; Glycine; Histidine; Injections, Intraperitoneal; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Protein Biosynthesis; Rats; Valine	1970
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
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
[Hyperaminoaciduria in children suffering from progressive muscular dystrophy]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1967, Volume: 67, Issue:7 Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Child; Child, Preschool; Creatine; Creatinine; Female; Glutamates; Histidine; Humans; Leucine; Lysine; Male; Methionine; Muscular Dystrophies; Nitrogen; Phenylalanine; Serine; Threonine; Tryptophan; Tyrosine; Valine	1967
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