biotin has been researched along with Amino Acid Metabolism Disorders, Inborn in 41 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 36 (87.80) | 18.7374 |
| 1990's | 2 (4.88) | 18.2507 |
| 2000's | 2 (4.88) | 29.6817 |
| 2010's | 1 (2.44) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Chen, J; Chen, SZ; Fan, CH; Li, R; Liu, XM; Sang, Y | 1 |
| Sloane, V; Waldrop, GL | 1 |
| Baumgartner, MR; Coelho, D; Dantas, MF; Fowler, B; Randolph, A; Suormala, T; Valle, D | 1 |
| Arai, N; Hirooka, Y; Igarashi, Y; Narisawa, K; Satoh, T; Tada, K | 1 |
| Causse, M; Frezal, J; Gaudry, M; Marquet, A; Marsac, C; Mitchell, G; Munnich, A; Ogier, H; Saudubray, JM | 1 |
| Thoene, J; Wolf, B | 1 |
| Lee, EB | 1 |
| Bartlett, K | 1 |
| Miyabayashi, S; Narisawa, K; Ohtake, M; Tada, K; Takada, G | 1 |
| Bartlett, K; Leonard, JV; Ng, H | 1 |
| Burri, BJ; Nyhan, WL; Sweetman, L | 1 |
| Cherruau, B; Demelier, JF; Lemonnier, A; Mangeot, M; Sacquet, E | 1 |
| Raetz, H; Wolf, B | 1 |
| Gravel, R; Harris, DJ; Hsia, YE; Nyhan, WL; Sweetman, L; Wolf, B | 1 |
| Allen, RJ; Beals, TF; Coulter, DL | 1 |
| Bach, G; Berman, M; Chemke, J; d'Azzo, A; Desnick, RJ; Kraus, JP; Mueller, OT; Rosenberg, LE; van Diggelen, OP; Velazquez, A; Wolf, B | 1 |
| Cardi, E | 1 |
| Baker, H; Packman, S; Sweetman, L; Wall, S | 1 |
| Baker, H; Cowan, M; Packman, S; Sweetman, L; Yoshino, M | 1 |
| Bergstrøm, T; Greter, J; Levin, AH; Steen, G; Tryding, N; Wass, U | 1 |
| Foremann, JW; Roth, KS; Rothman, R; Segal, S; Yang, W | 1 |
| Lehnert, W; Niederhoff, H; Saule, H | 1 |
| Wolf, B | 1 |
| Bartlett, K; Clayton, B; Hyde, J; Leonard, JV; Seakins, JW; Wilson, J | 1 |
| Bartlett, K; Gompertz, D | 1 |
| Rosenberg, LE | 1 |
| Frasch, W; Junker, A; Lehnert, W; Niederhoff, H; Saule, H | 1 |
| de Cespedes, C; Estrada, Y; Loria, AR; Nyhan, WL; Sweetman, L | 1 |
| Maggio, DC; Nyhan, WL; Sweetman, L; Weyler, W | 1 |
| Hillman, RE | 1 |
| Keeton, BR | 1 |
| Ajami, A; Barshop, BA; Nyhan, WL; Prodanos, C; Smith, M; Sweetman, FR; Sweetman, L; Wolff, JA; Yoshida, I | 1 |
| Bonnefont, JP; Bresson, JL; Halliday, D; Leonard, JV; Read, MA; Saudubray, JM; Thompson, GN; Walter, JH | 1 |
| Isselbacher, KJ; Tanaka, K | 1 |
| Draffan, GH; Gompertz, D; Hull, D; Watts, JL | 1 |
| Gompertz, D | 1 |
| Bartlett, K; Gompertz, D; Goodey, PA | 1 |
| Bartlett, K; Blair, D; Gompertz, D; Stern, CM | 1 |
| Eldjarn, L; Jellum, E; Pande, H; Stokke, O; Waaler, PE | 1 |
4 review(s) available for biotin and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Metabolic diseases and the skin.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Biotin; Child; Child, Preschool; Hartnup Disease; Homocystinuria; Humans; Infant; Infant, Newborn; Phenylketonurias; Skin Diseases; Tyrosine; Tyrosine Transaminase | 1983 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; Glutaryl-CoA Dehydrogenase; Humans; Intestinal Absorption; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methemoglobinemia; Methylmalonic Acid; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Propionates; Pyridoxine; Pyruvate Carboxylase Deficiency Disease; Pyruvate Kinase; Riboflavin; Tetrahydrofolate Dehydrogenase; Thiamine; Transcobalamins; Vitamin B 12; Vitamins | 1983 |
Propionic acidemia: a clinical update.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Carboxy-Lyases; Diagnosis, Differential; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Methylmalonyl-CoA Decarboxylase; Pregnancy; Prenatal Diagnosis; Prognosis; Propionates; Water-Electrolyte Imbalance | 1981 |
Inborn errors of organic acid metabolism.
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 |
37 other study(ies) available for biotin and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms.
Topics: Amino Acid Metabolism, Inborn Errors; Anticonvulsants; Biotin; Brain; Brain Diseases, Metabolic; Chromatography, Gas; Developmental Disabilities; Epilepsy; Female; Glutaryl-CoA Dehydrogenase; Humans; Infant; Liver; Liver Function Tests; Magnetic Resonance Imaging; Male; Mass Screening; Mass Spectrometry; Metabolic Diseases; Phenylketonurias; Spasms, Infantile; Succinate-Semialdehyde Dehydrogenase; Tomography, X-Ray Computed | 2015 |
Kinetic characterization of mutations found in propionic acidemia and methylcrotonylglycinuria: evidence for cooperativity in biotin carboxylase.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Carbon-Nitrogen Ligases; Catalysis; Crystallography, X-Ray; Escherichia coli; Humans; Kinetics; Mutagenesis, Site-Directed; Mutation; Protein Conformation; Structure-Activity Relationship; Substrate Specificity | 2004 |
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon-Carbon Ligases; DNA Mutational Analysis; Genotype; Humans; Infant, Newborn; Molecular Diagnostic Techniques; Mutation; Neonatal Screening; Open Reading Frames; Phenotype | 2005 |
Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.
Topics: Acetyl-CoA Carboxylase; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Female; Humans; Infant, Newborn; Ligases; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease | 1982 |
Deficient liver biotinidase activity in multiple carboxylase deficiency.
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Biotin; Biotinidase; Carboxy-Lyases; Humans; Infant; Ligases; Liver; Male | 1983 |
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Biotin; Biotinidase; Carboxy-Lyases; Child; Child, Preschool; Female; Humans; Ligases | 1983 |
Pyruvate carboxylase activity in lymphoblasts.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biotin; Female; Fibroblasts; Humans; Infant; Lymphocyte Culture Test, Mixed; Lymphocytes; Male; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1982 |
A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
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 |
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Apoenzymes; Apoproteins; Biotin; Carbohydrate Metabolism, Inborn Errors; Carbon-Nitrogen Ligases; Carboxy-Lyases; Crotonates; Dose-Response Relationship, Drug; Humans; Infant, Newborn; Kinetics; Ligases; Male; Mutation; Propionates; Pyruvate Carboxylase Deficiency Disease; Rats; Rats, Inbred Strains; Skin | 1981 |
[Biotin deficiency in the germ-free rat and propionic acidemia].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Carboxy-Lyases; Germ-Free Life; Isoleucine; Liver; Methylmalonyl-CoA Decarboxylase; Propionates; Rats; Rats, Inbred F344 | 1983 |
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Biotin; Carbohydrate Metabolism, Inborn Errors; Carboxy-Lyases; Hair; Humans; Infant; Lactates; Methylmalonyl-CoA Decarboxylase; Propionates; Pyruvate Carboxylase; Pyruvates | 1983 |
Neurotrichosis: hair-shaft abnormalities associated with neurological diseases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Biotin; Child, Preschool; Female; Growth Disorders; Hair; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Menkes Kinky Hair Syndrome; Microscopy, Electron, Scanning; Nervous System Diseases; Syndrome | 1982 |
Workshop on inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Carbohydrate Metabolism, Inborn Errors; Carbon-Carbon Ligases; Child, Preschool; Humans; Ligases; Neuraminidase; Rats | 1982 |
[Inborn errors of amino acid metabolism treatable with B group vitamins: synoptic aspects].
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Folic Acid; Humans; Nicotinic Acids; Pyridoxine; Thiamine; Vitamin B 12 | 1980 |
The neonatal form of biotin-responsive multiple carboxylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Carboxy-Lyases; Humans; Infant; Infant, Newborn; Male | 1981 |
Biotin-responsive multiple carboxylase deficiency of infantile onset.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Carboxy-Lyases; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male | 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.
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 |
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Apoproteins; Biotin; Carbon-Nitrogen Ligases; Chromatography, Ion Exchange; Humans; Infant; Infant, Newborn; Ligases; Renal Aminoacidurias | 1980 |
[Convulsions in an infant with biotin-dependent 3-methylcrotonylglycinuria].
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Female; Humans; Infant; Leucine; Seizures | 1980 |
Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Carbon-Carbon Ligases; Cells, Cultured; Child; Female; Fibroblasts; Humans; Leukocytes; Ligases; Male | 1980 |
Inherited disorders of 3-methylcrotonyl CoA carboxylation.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon-Carbon Ligases; Central Nervous System Diseases; Female; Humans; Infant; Infant, Newborn; Leucine; Ligases | 1981 |
Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Carboxy-Lyases; Child; Culture Media; Enzyme Activation; Fibroblasts; Humans; In Vitro Techniques; Ligases; Transferases | 1976 |
Use of cofactors in inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Female; Folic Acid; Humans; Infant, Newborn; Niacinamide; Pyridoxine; Thiamine; Vitamin B 12; Vitamins | 1979 |
A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Female; Humans; Infant; Leucine; Muscle Hypotonia; Seizures | 1979 |
The diagnosis and management of propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Isoleucine; Male; Methionine; Propionates; Threonine; Valine | 1978 |
Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Carbon Dioxide; Cells, Cultured; Coenzyme A; Crotonates; Fibroblasts; Humans; Kinetics; Ligases; Propionates; Skin | 1977 |
Megavitamin responsive aminoacidopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Child; Drug Administration Schedule; Folic Acid; Humans; Infant, Newborn; Pyridoxine; Thiamine; Vitamin B 12; Vitamins | 1976 |
Organic aciduria. Treatable cause of floppy infant syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Butyrates; Crotonates; Female; Humans; Infant; Infant, Newborn; Ligases; Muscle Tonus; Muscular Diseases; Valerates | 1976 |
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon Dioxide; Carboxy-Lyases; Carnitine; Child; Child, Preschool; Female; Half-Life; Humans; Infant; Male; Methylmalonic Acid; Methylmalonyl-CoA Decarboxylase; Propionates; Transcobalamins; Vitamin B 12 | 1991 |
A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Breath Tests; Carbon Dioxide; Carbon Isotopes; Carboxy-Lyases; Child, Preschool; Female; Fibroblasts; Humans; Kinetics; Methylmalonyl-CoA Decarboxylase; Propionates | 1990 |
Experimental beta-hydroxyisovaleric aciduria induced by biotin deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Avitaminosis; Biotin; Butyrates; Carbon Isotopes; Leucine; Rats | 1970 |
Biotin-responsive beta-methylcrotonylglycinuria.
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 |
Evidence for the enzymic defect in beta-methylcrotonylglycinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon Isotopes; Child, Preschool; Coenzyme A; Crotonates; Glycine; Humans; Infant, Newborn; Leucine; Leukocytes; Ligases | 1973 |
Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Creatinine; Crotonates; Glycine; Humans; Infant; Leucine; Male; Pentanols; Pneumonia; Valerates | 1973 |
Vitamin dependency syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Coenzymes; Humans; Infant; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenotype; Pyridoxine; Thiamine; Vitamin B 12; Vitamin D | 1972 |
Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.
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 |
[Biotin dependent propionacidemia].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Biotin; Child, Preschool; Diet; Humans; Ketones; Male; Propionates | 1970 |