Page last updated: 2024-09-02

valerates and Amino Acid Metabolism Disorders, Inborn

valerates has been researched along with Amino Acid Metabolism Disorders, Inborn in 86 studies

Research

Studies (86)

Timeframe	Studies, this research(%)	All Research%
pre-1990	74 (86.05)	18.7374
1990's	2 (2.33)	18.2507
2000's	6 (6.98)	29.6817
2010's	4 (4.65)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Acquaviva-Bourdain, C; Briand, G; Dobbelaere, D; Fontaine, M; Jissendi-Tchofo, P; Mention, K; Roland, D; Ultré, V; Vamecq, J	1
Afroze, B; Ali, ZZ; Fatimah, M; Jafri, L; Jamil, A; Khan, AH; Majid, H; Yusufzai, N	1
Dar, DE; Dumin, E; Idin, A; Korman, SH; Tal, G	1
Asamoah, A; De Biase, I; Pasquali, M	1
Baldellou, A; Briones, P; Campistol, J; Cortés, N; Delpiccolo, C; Fernández, C; Fons, C; Fuentes-Castelló, MA; García-Villoria, J; González, I; Hernández-Gonzalez, A; Messeguer, A; Navarro-Sastre, A; Pérez-Cerdá, C; Ribes, A	1
Das, AM; Gibson, KM; Illsinger, S; Lücke, T; Zschocke, J	1
Engelke, UF; Kluijtmans, LA; Kremer, B; Loss, S; Loupatty, FJ; Morava, E; Moskau, D; van den Bergh, E; van der Graaf, M; Wanders, RJ; Wevers, RA	1
Barea, L; Baumgartner, MR; Dantas, MF; Fowler, B; Giugliani, R; Graziadio, C; Paskulin, G; Perla, A; Pinto, L; Rosa, R; Vargas, C; Wajner, M; Zen, P	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
Prieto, EC; Velazquez, A	1
Beemer, FA; Bruinvis, L; Duran, M; Ketting, D; Tibosch, AS; Wadman, SK	1
Jakobs, C; Nyhan, WL; Packman, S; Sweetman, L	1
Audenaert, SM; Squillaro, EJ; Wilson, WG	1
Jakobs, C; Nyhan, WL; Sweetman, L	1
Hine, DG; Tanaka, K	1
Bohan, TP; Kahler, SG; Maltby, DA; Millington, DS; Roe, CR	1
Burke, DG; Danks, D; Halpern, B; Malegan, D; McCairns, E; Schlesinger, P; Wilken, B	1
Duran, M; Houstková, H; Hyánek, J; Kozich, V; Pĕtová, J; Pisacka, M; Rubín, A; Wadman, SK; Zapadlo, M; Zeman, J	1
Dabrowski, C; Dubiel, B; Tanaka, K; Wetts, R	1
Bruinvis, L; Dorland, L; Duran, M; Ketting, D; Niederwieser, A; Wadman, SK	1
Liehr, JG; Mendiola, J; Robotham, JL; Williams, JC	1
Bartlett, K; Leonard, JV; Ng, H	1
Hillman, RE; Peden, VH; Williams, KM	1
Batenburg-Plenter, AM; Bruinvis, L; Duran, M; Ketting, D; van Pelt, BC; Wadman, SK	1
Mori, M; Tatibana, M; Uchiyama, C; Yamashita, F; Yoshida, I; Yoshino, M	1
Berry, HK; Denton, MD; Norman, EJ	1
Kuhara, T; Matsumoto, I; Matsuo, M; Shinka, T	1
Inoue, Y; Kameyama, J; Momoi, T; Shigematsu, Y; Sudo, M; Suzuki, Y	1
Bakkeren, JA; Houben, ML; Ruitenbeek, W; Sengers, RC; Trijbels, JM; Van der Zeè, SP	1
Lehnert, W	2
Lehnert, W; Niederhoff, H	1
Bergstrøm, T; Greter, J; Levin, AH; Steen, G; Tryding, N; Wass, U	1
August, CS; Cohn, RM; Hutchinson, R; Kelleher, JF; Yudkoff, M	1
Junker, A; Lehnert, W	1
Brandis, M; Ensenauer, R; Gibson, KM; Lehnert, W; Müller, CB; Schwab, KO	1
Mahoney, MJ	1
Fennessey, PV; Goodman, SI; Jellum, E; Mace, JW; McCabe, ER; Miles, BS	1
Blaskovics, ME; Donnell, GN; Ng, WG	1
Amédée-Manesme, O; Besson-Leaud, M; Charpentier, C; Checouri, A; Coude, FX; Ferre, P; Lavaud, J; Leraillez, J; Mselati, JC; Ogier, H; Saudubray, JM	1
Porath, U; Schreier, K	1
Piccardo, M; Tassara, F; Vico, L	1
Bruinvis, L; Drewes, JG; Duran, M; Ketting, D; van Sprang, FJ; Wadman, SK	1
Lowenthal, A; Marescau, B; Pintens, J; Terheggen, HG	1
Rasmussen, K	1
Kodama, H; Uasa, S	1
Lehnert, W; Niederhoff, H; Schenck, W	1
Cohn, RM; Puschak, R; Rothman, R; Segal, S; Yudkoff, M	1
Seshamani, R; Vashistha, K; Winokur, PA	1
Hidaka, T	1
Cohn, RM; Rothman, R; Segal, S; Yudkoff, M	1
Bartlett, K; Gompertz, D; Malan, C; Neethling, AC; Schraader, EB; Shanley, BC	1
Mandell, R; Shih, VE; Tanaka, K	2
Keeton, BR	1
Charpentier, C; Depondt, E; Herouin, C; Pousset, JL; Saudubray, JM; Sorin, M	1
Bolton, PD; Danks, DM; Faull, KF; Halpern, B; Hammond, J	1
Bogair, N; Charles, R; Gil-Av, E; Legum, C; Spirer, Z; Swirsky-Fein, S; Zakut, V	1
Krieger, I; Tanaka, K	1
Chalmers, RA; Halliday, D; Thompson, GN	1
Tanaka, K	1
Pollitt, RJ	1
Goodman, SI; Hack, AM; Hine, DG; Tanaka, K	1
Hyman, DB; Tanaka, K	1
Inoue, F; Maltby, DA; Millington, DS; Roe, CR	1
Ikeda, Y; Keese, SM; Tanaka, K	1
Bradley, D; Chalmers, RA; de Sousa, C; Stacey, TE; Tracey, BM; Weaver, C	1
Green, A; Pollitt, RJ; Smith, R	1
Bradley, D; Chalmers, RA; de Sousa, C; Stacey, TE; Tracey, BM; Weaver, CM	1
Draffan, GH; Gompertz, D; Hull, D; Watts, JL	1
Erickson, AM; Kurtz, DJ; Levy, HL; Lott, IT	1
Fujii, Y; Kodama, H; Mizuhara, S; Tanaka, K	1
Mamer, OA; Tjoa, SS	1
Gompertz, D	1
Daum, RS; Delvin, E; Goldman, H; Lamm, P; Mamer, OA; Scriver, CR	1
Halpern, B; Williams, KM	1
Bartlett, K; Blair, D; Gompertz, D; Stern, CM	1
Bartlett, K; Gompertz, D	1
Dallaire, L; Grignon, B; Melançon, SB; Potier, M	1
Draffan, GH; Gompertz, D	1
Eldjarn, L; Jellum, E; Pande, H; Stokke, O; Waaler, PE	1
Kishimoto, Y; Kurtz, DJ; Levy, HL; Plotkin, W	1
Budd, MA; Efron, ML; Isselbacher, KJ; Tanaka, K	1
Isselbacher, KJ; Miller, EM; Tanaka, K	1
Carpenter, DG; Carter, CH	1

Reviews

4 review(s) available for valerates and Amino Acid Metabolism Disorders, Inborn

Article	Year
Organic acidemias. Clinics in perinatology, 1976, Volume: 3, Issue:1 Topics: Acidosis, Renal Tubular; Acids; Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Child; Diagnosis, Differential; Glutarates; Humans; Hydrogen-Ion Concentration; Infant; Infant, Newborn; Leucine; Ligases; Methylmalonic Acid; Prenatal Diagnosis; Propionates; Pyruvates; Urea; Valerates	1976
[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
[Some clinical and therapeutic aspects of organico-acidemia and organico-aciduria]. La Clinica terapeutica, 1977, Apr-15, Volume: 81, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Butyrates; Humans; Maple Syrup Urine Disease; Metabolic Diseases; Methylmalonic Acid; Propionates; Renal Aminoacidurias; Valerates	1977
Inborn errors of organic acid metabolism. Clinics in endocrinology and metabolism, 1974, Volume: 3, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biotin; Carboxylic Acids; Chromatography, Gas; Coenzyme A; Crotonates; Female; Gestational Age; Humans; Hydroxy Acids; Hydroxybutyrates; Infant; Infant, Newborn; Isomerases; Leucine; Male; Malonates; Metabolism, Inborn Errors; Pedigree; Pregnancy; Prenatal Diagnosis; Propionates; Pyrrolidonecarboxylic Acid; Valerates; Vitamin B 12	1974

Other Studies

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

Article	Year
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients. Molecular genetics and metabolism, 2017, Volume: 121, Issue:2 Topics: Acetyl-CoA C-Acetyltransferase; Amino Acid Metabolism, Inborn Errors; Brain; Brain Chemistry; Cerebellum; Child; Child, Preschool; Female; Humans; Hydrogen-Ion Concentration; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Meglutol; Metabolomics; Proton Magnetic Resonance Spectroscopy; Urine; Valerates; White Matter	2017
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. JPMA. The Journal of the Pakistan Medical Association, 2018, Volume: 68, Issue:4 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; Female; Glycine; Humans; Infant; Lactic Acid; Male; Methionine; Mitochondrial Diseases; Pakistan; Tertiary Care Centers; Urinalysis; Valerates; Vitamin B 12 Deficiency	2018
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria. Clinical chemistry, 2018, Volume: 64, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Crohn Disease; Humans; Hyperargininemia; Male; Middle Aged; Ornithine; Valerates	2018
Unusual Metabolites in a Patient with Isovaleric Acidemia. Clinical chemistry, 2019, Volume: 65, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Female; Fumarates; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Maleates; Succinates; Valerates	2019
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clinical biochemistry, 2009, Volume: 42, Issue:1-2 Topics: 3-Hydroxyacyl CoA Dehydrogenases; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Female; Glycine; Heredodegenerative Disorders, Nervous System; Humans; Hydroxybutyrates; Infant; Infant, Newborn; Male; Valerates	2009
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. Pediatric neurology, 2004, Volume: 30, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; DNA Mutational Analysis; Enoyl-CoA Hydratase; Fibroblasts; Follow-Up Studies; Glutarates; Heterozygote; Homozygote; Humans; Hydro-Lyases; Introns; Male; Phenotype; Recurrence; RNA Splice Sites; RNA-Binding Proteins; Seizures, Febrile; Valerates	2004
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR in biomedicine, 2006, Volume: 19, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Female; Glutarates; Humans; Leucine; Magnetic Resonance Spectroscopy; Meglutol; Middle Aged; Valerates	2006
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Carbon-Carbon Ligases; Child, Preschool; Glycine; Humans; Male; Phenotype; Stroke; Valerates	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. Canadian Medical Association journal, 1967, Nov-11, Volume: 97, Issue:20 Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Infant, Newborn; Leucine; Odorants; Valerates	1967
Glycine in acute management of isovalericacidaemia. Lancet (London, England), 1980, Feb-09, Volume: 1, Issue:8163 Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Infant; Leucine; Oxidoreductases; Valerates	1980
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. The Journal of pediatrics, 1982, Volume: 101, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Glutarates; Humans; Hydro-Lyases; Leucine; Male; Meglutol; Speech Disorders; Valerates	1982
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Carboxy-Lyases; Female; Humans; Leucine; Pregnancy; Prenatal Diagnosis; Valerates	1984
Hyperammonaemia in a preterm infant with isovaleric acidaemia. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Glycine; Hemiterpenes; Humans; Infant, Newborn; Infant, Premature; Pentanoic Acids; Valerates	1984
Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. Clinica chimica acta; international journal of clinical chemistry, 1984, Jul-16, Volume: 140, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Amniotic Fluid; Caproates; Female; Gas Chromatography-Mass Spectrometry; Humans; Hydroxy Acids; Hydroxybutyrates; Maple Syrup Urine Disease; Methylmalonic Acid; Pentanoic Acids; Pregnancy; Prenatal Diagnosis; Valerates	1984
The identification and the excretion pattern of isovaleryl glucuronide in the urine of patients with isovaleric acidemia. Pediatric research, 1984, Volume: 18, Issue:6 Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Glucuronates; Glycine; Humans; Isovaleryl-CoA Dehydrogenase; Leucine; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Valerates	1984
L-carnitine therapy in isovaleric acidemia. The Journal of clinical investigation, 1984, Volume: 74, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Chromatography, Ion Exchange; Glycine; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Male; Mass Spectrometry; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Valerates	1984
Profiles of urinary volatiles from metabolic disorders characterized by unusual odors. Clinical chemistry, 1983, Volume: 29, Issue:10 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Flame Ionization; Hemiterpenes; Humans; Infant, Newborn; Maple Syrup Urine Disease; Methylamines; Pentanoic Acids; Phenylketonurias; Valerates	1983
[Isovaleric aciduria]. Casopis lekaru ceskych, 1983, Sep-02, Volume: 122, Issue:35 Topics: Amino Acid Metabolism, Inborn Errors; Hemiterpenes; Humans; Infant; Infant, Newborn; Leucine; Male; Pentanoic Acids; Valerates	1983
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. The Journal of clinical investigation, 1983, Volume: 72, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cell Fusion; Cell Line; Fibroblasts; Glutarates; Hemiterpenes; Humans; Oxidation-Reduction; Pentanoic Acids; Polyethylene Glycols; Valerates	1983
Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactions. Clinica chimica acta; international journal of clinical chemistry, 1983, Oct-31, Volume: 134, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Glucuronates; Hemiterpenes; Humans; Hydrogen-Ion Concentration; Pentanoic Acids; Valerates	1983
Neonatal lethargy due to isovaleric acidemia and hyperammonemia. Texas medicine, 1984, Volume: 80, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Hemiterpenes; Humans; Infant, Newborn; Male; Pentanoic Acids; Sleep Stages; Valerates	1984
A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. Clinica chimica acta; international journal of clinical chemistry, 1980, Jan-15, Volume: 100, Issue:2 Topics: Acidosis; Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Biotin; Butyrates; Carbon Dioxide; Carboxy-Lyases; Child, Preschool; Crotonates; Female; Fibroblasts; Glycine; Humans; Hydroxy Acids; Ligases; Mitochondria; Propionates; Pyruvate Carboxylase Deficiency Disease; Valerates	1980
Isovalericacidemia appearing as diabetic ketoacidosis. American journal of diseases of children (1960), 1981, Volume: 135, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diabetic Ketoacidosis; Diagnosis, Differential; Hemiterpenes; Humans; Hyperglycemia; Pentanoic Acids; Valerates	1981
Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities. Journal of inherited metabolic disease, 1982, Volume: 5, Issue:2 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Cataract; Child; Dwarfism; Female; Glycine; Hemiterpenes; Humans; Intellectual Disability; Pentanoic Acids; Valerates	1982
Neonatal isovaleric acidemia associated with hyperammonemia. Advances in experimental medicine and biology, 1982, Volume: 153 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Hemiterpenes; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Liver; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Urea; Valerates	1982
Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins. Clinical chemistry, 1982, Volume: 28, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Hydroxy Acids; Infant; Leucine; Male; Meglutol; Oxo-Acid-Lyases; Valerates	1982
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia. Clinica chimica acta; international journal of clinical chemistry, 1982, Aug-04, Volume: 123, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Infant, Newborn; Lactates; Lactic Acid; Methylmalonyl-CoA Decarboxylase; Propionates; Valerates	1982
Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack. Pediatric research, 1982, Volume: 16, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Glycine; Hemiterpenes; Humans; Hydroxybutyrates; Leucine; Pentanoic Acids; Valerates	1982
[Isovaleric acidemia: identical biochemical picture in 3 patients with variable clinical manifestations]. Tijdschrift voor kindergeneeskunde, 1982, Volume: 50, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Glycine; Hemiterpenes; Humans; Infant; Infant, Newborn; Leucine; Male; Oxidation-Reduction; Pentanoic Acids; Valerates	1982
3-Hydroxyisoheptanoic acid: a new metabolite in isovaleric acidemia. Clinica chimica acta; international journal of clinical chemistry, 1981, Jun-02, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Gas Chromatography-Mass Spectrometry; Hemiterpenes; Heptanoic Acids; Humans; Magnetic Resonance Spectroscopy; Pentanoic Acids; Valerates	1981
4-hydroxyisovaleric acid: a new metabolite in isovaleric acidemia. European journal of pediatrics, 1981, Volume: 136, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Leucine; Valerates	1981
Excretion of N-isovalerylglutamic acid in isovaleric acidemia. Clinica chimica acta; international journal of clinical chemistry, 1981, Oct-26, Volume: 116, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Glutamates; Hemiterpenes; Humans; Pentanoic Acids; Valerates	1981
Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine. Scandinavian journal of clinical and laboratory investigation, 1981, Volume: 41, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Caproates; Carboxy-Lyases; Dietary Proteins; Female; Humans; Hydroxy Acids; Infant; Infant, Newborn; Keto Acids; Leukocytes; Maleates; Methylmalonyl-CoA Decarboxylase; Pentanoic Acids; Propionates; Reye Syndrome; Valerates	1981
The pancytopenia of isovaleric acidemia. Pediatrics, 1980, Volume: 65, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Bone Marrow Examination; Female; Hematopoietic Stem Cells; Hemiterpenes; Humans; Infant, Newborn; Leucine; Male; Pancytopenia; Pentanoic Acids; Valerates	1980
[2-Methyl-3-oxovaleric acid: a characteristic metabolite in propionic acidemia]. Clinica chimica acta; international journal of clinical chemistry, 1980, May-21, Volume: 104, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Citrates; Female; Humans; Keto Acids; Pentanoic Acids; Propionates; Valerates	1980
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Diet, Protein-Restricted; Fibroblasts; Glutarates; Humans; Hydro-Lyases; Meglutol; Speech Disorders; Valerates	2000
Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency. Clinica chimica acta; international journal of clinical chemistry, 1978, Aug-01, Volume: 87, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Humans; Hydroxy Acids; Infant, Newborn; Infant, Newborn, Diseases; Isomerases; Liver; Male; Malonates; Malonyl Coenzyme A; Mass Spectrometry; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Pentanoic Acids; Valerates	1978
Prenatal diagnosis and a case report of isovaleric acidaemia. Journal of inherited metabolic disease, 1978, Volume: 1, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Gas; Female; Humans; Leucine; Male; Pedigree; Pregnancy; Prenatal Diagnosis; Valerates	1978
[Emergency treatment of inborn amino errors of amino acid metabolism detected in the neonatal period]. Archives francaises de pediatrie, 1979, Volume: 36, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Diuretics, Osmotic; Emergencies; Enteral Nutrition; Exchange Transfusion, Whole Blood; Humans; Infant, Newborn; Leucine; Methylmalonic Acid; Peritoneal Dialysis; Propionates; Valerates	1979
Two sisters with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development. European journal of pediatrics, 1979, Jun-28, Volume: 131, Issue:3 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Coma; Female; Humans; Intelligence; Ketosis; Valerates; Vomiting	1979
Excretion of alpha-keto-delta-guanidinovaleric acid and its cyclic form in patients with hyperargininemia. Clinica chimica acta; international journal of clinical chemistry, 1979, Oct-15, Volume: 98, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Female; Guanidines; Humans; Keto Acids; Valerates	1979
[Isovaleric acidemia]. Ugeskrift for laeger, 1979, Nov-26, Volume: 141, Issue:48 Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Humans; Oxidoreductases; Valerates	1979
Isotachophoretic analysis of isovalerylglycine in urine of a patient with isovaleric acidemia. Journal of chromatography, 1979, Jul-21, Volume: 163, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Dipeptides; Electrophoresis; Hemiterpenes; Humans; Pentanoic Acids; Valerates	1979
[Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)]. Klinische Padiatrie, 1979, Volume: 191, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hypertrophy; Infant; Infant, Newborn; Leucine; Male; Pyloric Stenosis; Valerates	1979
Glycine therapy in isovaleric acidemia. The Journal of pediatrics, 1978, Volume: 92, Issue:5 Topics: Acidosis; Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Drug Administration Schedule; Female; Glycine; Humans; Keto Acids; Ketone Bodies; Lactates; Leucine; Pyruvates; Valerates	1978
Isovalericacidemia: a case report. Pediatrics, 1978, Volume: 61, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant, Newborn; Male; Physical Examination; Valerates	1978
[Isovaleric acidemia and beta-hydroxyisovaleric aciduria]. Nihon rinsho. Japanese journal of clinical medicine, 1978, Volume: Suppl Topics: Amino Acid Metabolism, Inborn Errors; Humans; Infant; Infant, Newborn; Leucine; Valerates	1978
Isovaleric acidemia: use of glycine therapy in neonates. The New England journal of medicine, 1978, Nov-02, Volume: 299, Issue:18 Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Infant, Newborn; Male; Time Factors; Valerates	1978
Isovaleric acidaemia in two South African children. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1977, Jun-25, Volume: 51, Issue:26 Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Dipeptides; Female; Humans; Infant; Male; Remission, Spontaneous; South Africa; Valerates	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
Organic aciduria. Treatable cause of floppy infant syndrome. Archives of disease in childhood, 1976, Volume: 51, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Butyrates; Crotonates; Female; Humans; Infant; Infant, Newborn; Ligases; Muscle Tonus; Muscular Diseases; Valerates	1976
[Isovaleric acidemia. Study and treatment in 3 brothers]. Archives francaises de pediatrie, 1976, Volume: 33, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Fatty Acids, Volatile; Female; Humans; Infant; Infant, Newborn; Leucine; Male; Oxidoreductases; Peritoneal Dialysis; Sweat; Valerates	1976
The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. Clinica chimica acta; international journal of clinical chemistry, 1976, Volume: 73, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Butyrates; Chromatography, Gas; Crotonates; Glutarates; Humans; Hydroxy Acids; Mass Spectrometry; Valerates	1976
Acute neonatal isovaleric acidemia. A report of two cases. Israel journal of medical sciences, 1975, Volume: 11, Issue:10 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Male; Pedigree; Valerates	1975
Therapeutic effects of glycine in isovaleric acidemia. Pediatric research, 1976, Volume: 10, Issue:1 Topics: Acidosis; Alkalies; Amino Acid Metabolism, Inborn Errors; Child; Female; Glycine; Humans; Inactivation, Metabolic; Ketosis; Oxidoreductases; Valerates	1976
The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria. European journal of pediatrics, 1990, Volume: 149, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child; Diseases in Twins; Female; Glutarates; Humans; Leucine; Male; Meglutol; Oxo-Acid-Lyases; Phenylalanine; Proteins; Valerates	1990
Isovaleric acidemia: personal history, clinical survey and study of the molecular basis. Progress in clinical and biological research, 1990, Volume: 321 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Cell Line; Child, Preschool; Female; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Leucine; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Prognosis; Valerates	1990
Endogenous catabolism as source of toxic metabolites in isovaleric acidemia. The Journal of pediatrics, 1987, Volume: 111, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Hemiterpenes; Humans; Leucine; Pentanoic Acids; Valerates	1987
Stable isotope dilution analysis of isovalerylglycine in amniotic fluid and urine and its application for the prenatal diagnosis of isovaleric acidemia. Pediatric research, 1986, Volume: 20, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Gas Chromatography-Mass Spectrometry; Glycine; Hemiterpenes; Humans; Pentanoic Acids; Pregnancy; Prenatal Diagnosis; Risk; Valerates	1986
Isovaleryl-CoA dehydrogenase activity in isovaleric acidemia fibroblasts using an improved tritium release assay. Pediatric research, 1986, Volume: 20, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Kinetics; Leucine; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Skin; Tritium; Valerates	1986
Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia. The Journal of pediatrics, 1987, Volume: 110, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Dietary Proteins; Glycine; Humans; Isovaleryl-CoA Dehydrogenase; Leucine; Male; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Valerates	1987
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts. Proceedings of the National Academy of Sciences of the United States of America, 1985, Volume: 82, Issue:20 Topics: Amino Acid Metabolism, Inborn Errors; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Genetic Carrier Screening; Genetic Variation; Hemiterpenes; Humans; Isovaleryl-CoA Dehydrogenase; Methionine; Molecular Weight; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Pentanoic Acids; Valerates	1985
L-carnitine and glycine therapy in isovaleric acidaemia. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 2 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Female; Glycine; Hemiterpenes; Humans; Pentanoic Acids; Valerates	1985
Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. Journal of inherited metabolic disease, 1985, Volume: 8, Issue:2 Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; beta-Alanine; Child, Preschool; Humans; Hydroxybutyrates; Lactates; Lactic Acid; Male; Malonate-Semialdehyde Dehydrogenase (Acetylating); Malonates; Malondialdehyde; Methylmalonate-Semialdehyde Dehydrogenase (Acylating); Valerates	1985
The response to L-carnitine and glycine therapy in isovaleric acidaemia. European journal of pediatrics, 1986, Volume: 144, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxylic Acids; Carnitine; Child, Preschool; Combined Modality Therapy; Drug Therapy, Combination; Female; Glycine; Hemiterpenes; Humans; Pentanoic Acids; Valerates	1986
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
Isovaleric acidemia: results of family study and dietary treatment. Pediatrics, 1973, Volume: 52, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Developmental Disabilities; Diet Therapy; Fatty Acids; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Intelligence Tests; Leucine; Male; Odorants; Pedigree; Valerates	1973
No evidence of isovalthinuria in isovaleric acidemia-- brief note. Acta medicinae Okayama, 1970, Volume: 24, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Child, Preschool; Electrophoresis; Filtration; Humans; Leucine; Valerates	1970
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
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
The use of gas chromatography-mass spectrometry for the diagnosis and study of metabolic disorders. I. The screening and identification of urinary and serum amino acids. Australian journal of biological sciences, 1973, Volume: 26, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Gas; Chromatography, Ion Exchange; Mass Spectrometry; Methods; Valerates	1973
Diagnosis of isovaleric acidemia in cultured fibroblasts. Clinica chimica acta; international journal of clinical chemistry, 1973, Nov-15, Volume: 48, Issue:4 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Heterozygote; Humans; Infant, Newborn; Leucine; Pregnancy; Prenatal Diagnosis; Skin; Valerates	1973
Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria. Archives of disease in childhood, 1973, Volume: 48, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Creatinine; Crotonates; Glycine; Humans; Infant; Leucine; Male; Pentanols; Pneumonia; Valerates	1973
The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias. Biochemical medicine, 1974, Volume: 10, Issue:1 Topics: Acetyl Coenzyme A; Acyltransferases; Amino Acid Metabolism, Inborn Errors; Animals; Benzoates; Butyrates; Cattle; Chromatography, Gel; Chromatography, Ion Exchange; Computers; Crotonates; Glycine; Kinetics; Malonates; Mitochondria, Liver; Propionates; Regression Analysis; Spectrophotometry; Spectrophotometry, Ultraviolet; Valerates	1974
[Comparative study of urine and serum organic acids in newborn infants using gas chromatography]. L'union medicale du Canada, 1974, Volume: 103, Issue:4 Topics: Acids; Amino Acid Metabolism, Inborn Errors; Benzoates; Blood Chemical Analysis; Caprylates; Chromatography, Gas; Citrates; Female; Glutamates; Hippurates; Homovanillic Acid; Humans; Lactates; Male; Malonates; Mandelic Acids; Palmitic Acids; Phenylacetates; Stearic Acids; Succinates; Tyrosine; Umbilical Cord; Urine; Valerates	1974
The identification of tiglylglycine in the urine of a child with -methylcrotonylglycinuria. Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 37 Topics: Amino Acid Metabolism, Inborn Errors; Butyrates; Child; Chromatography, Gas; Chromatography, Thin Layer; Coenzyme A; Diet Therapy; Dietary Proteins; Glycine; Humans; Hydro-Lyases; Male; Mass Spectrometry; Valerates	1972
Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation. Pediatrics, 1972, Volume: 49, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Bronchopneumonia; Butyrates; Carbon Dioxide; Carbon-Carbon Ligases; Chromatography, Gas; Diet Therapy; Female; Glycine; Humans; Infant; Leucine; Ligases; Mass Spectrometry; Neurologic Manifestations; Odorants; Pentanols; Valerates	1972
A rapid method for the quantitative analysis of short-chain fatty acids in serum or plasma. Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 34, Issue:3 Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Butyrates; Caproates; Chromatography, Gas; Fatty Acids; Leucine; Methods; Propionates; Time Factors; Valerates	1971
Isovaleric acidemia: a new genetic defect of leucine metabolism. Proceedings of the National Academy of Sciences of the United States of America, 1966, Volume: 56, Issue:1 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Butyrates; Caproates; Child, Preschool; Chromatography, Gas; Coenzyme A; Fatty Acids; Female; Humans; Leucine; Male; Propionates; Valerates	1966
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
Inborn errors of metabolism associated with unusual odors. The Journal of the Florida Medical Association, 1970, Volume: 57, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Fatty Acids; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Malabsorption Syndromes; Maple Syrup Urine Disease; Methionine; Odorants; Phenylalanine; Tryptophan; Valerates	1970