biotin has been researched along with Ataxia with Lactic Acidosis 2 in 45 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 40 (88.89) | 18.7374 |
1990's | 5 (11.11) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Charpentier, C; Coude, FX; Frezal, J; Munnich, A; Saudubray, JM; Saurat, JH | 1 |
Feldman, GL; Wolf, B | 3 |
Carré, G; Charpentier, C; Coudé, FX; Frézal, J; Munnich, A; Ogier, H; Saudubray, JM | 1 |
Roth, KS | 2 |
Baker, H; Burri, BJ; Caswell, NM; Cowan, MJ; Golbus, MS; Nyhan, WL; Packman, S; Sweetman, L | 1 |
Arai, N; Hirooka, Y; Igarashi, Y; Narisawa, K; Satoh, T; Tada, K | 1 |
Bartlett, K | 1 |
Miyabayashi, S; Narisawa, K; Ohtake, M; Tada, K; Takada, G | 1 |
Gravel, R; Oei, J; Robinson, BH; Saunders, M | 1 |
Robinson, BH | 1 |
Applegarth, D; Casey, R; Goodyer, P; Haworth, J; Oei, J; Robinson, BH; Sherwood, WG; Wong, L; Zaleski, LA | 1 |
Baumgartner, ER; Bonjour, JP; Suormala, T; Wick, H | 3 |
Bartlett, K; Leonard, JV; Ng, H | 1 |
Baker, H; Sweetman, L; Thoene, J; Yoshino, M | 1 |
Bart, RD; Boychuk, RB; Crowell, DH; Di Mauro, RM; Feldman, G; Hsia, YE; Nyhan, WL; Sweetman, L; Wolf, B | 1 |
Sweetman, L | 1 |
Feldman, GL; Hsia, YE; Wolf, B | 1 |
Burri, BJ; Nyhan, WL; Sweetman, L | 2 |
Allan, L; Dakshinamurti, K; Gravel, RA; Roth, KS; Saunders, M; Yang, W | 1 |
Baker, H; Caswell, NM; Packman, S | 1 |
Brewster, T; Gravel, RA; Robinson, BH; Saunders, M; Sherwood, WG | 1 |
Baumgartner, R; Geisert, J; Lehnert, W; Suormala, T; Wick, H | 1 |
Glasgow, AM; Higgins, JJ; Kerr, DS; Lusk, M | 1 |
Du, Y; Freytag, SO; Kerr, DS; Kwon, M; Lisgaris, MV; Liu, TC; Mandal, SK; Patel, MS; Wexler, ID; Yang, BS | 1 |
Higgins, JJ; Ide, SE; Oghalai, JS; Polymeropoulos, MH | 1 |
Baumgartner, R; Baur, B; Burtscher, A; Duran, M; Fowler, B; Fuchshuber, A; Lenze, MJ; Raab, K; Suormala, T; Tratzmüller, R; Wick, H | 1 |
Dias, T; Hommes, FA; Schrijver, J | 1 |
Cohn, R; Gravel, RA; Robinson, B; Roth, K; Saunders, M; Sweetman, L | 1 |
Ambani, LM; Apte, BN; Shah, SB; Tibrewala, VN | 1 |
Bartlett, K; Ghneim, HK; Leonard, JV; Sherratt, HS; Stirk, JH; Wastell, HJ | 1 |
Bonjour, JP | 1 |
Bartlett, K; Ghneim, HK; Stirk, HJ; Wastell, H | 1 |
Bartlett, K; Low, LC; Seakins, JW; Shaikh, SA; Stephenson, JB | 1 |
Nyhan, WL; Sweetman, L | 1 |
Bartlett, K; Gravel, R; Marsac, C; Oei, J; Quan, F; Robinson, BH; Saudubray, JM | 1 |
Gravel, RA; Robinson, BH | 1 |
Grier, RE; Heard, GS; McVoy, JR; Wolf, B | 1 |
Berlit, P; Bonjour, JP; Kochen, W; Krause, KH | 1 |
Erasmus, C; Mienie, LJ; Reinecke, CJ; Wadman, SK | 1 |
6 review(s) available for biotin and Ataxia with Lactic Acidosis 2
Article | Year |
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Biotin in clinical medicine--a review.
Topics: Acetyl-CoA Carboxylase; Adult; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Child; Dermatitis; Female; Humans; Infant; Intestinal Absorption; Ligases; Male; Methylmalonyl-CoA Decarboxylase; Milk, Human; Propionates; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1981 |
The biotin-dependent carboxylase deficiencies.
Topics: Acetyl-CoA Carboxylase; Animals; Biotin; Carbon-Carbon Ligases; Citric Acid Cycle; Cytosol; Dietary Proteins; Female; Humans; Infant; Infant, Newborn; Ligases; Male; Metabolism, Inborn Errors; Mitochondria; Molecular Weight; Pregnancy; Prenatal Diagnosis; Propionates; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1982 |
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 |
Biotin in human nutrition.
Topics: Acetyl-CoA Carboxylase; Biotin; Carboxy-Lyases; Humans; Methylmalonyl-CoA Decarboxylase; Nutritional Physiological Phenomena; Parenteral Nutrition, Total; Pyruvate Carboxylase Deficiency Disease | 1985 |
Enzyme studies in biotin-responsive disorders.
Topics: Acetyl-CoA Carboxylase; Amidohydrolases; Biotin; Biotinidase; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Carboxy-Lyases; Humans; Ligases; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease | 1985 |
Inheritable biotin-treatable disorders and associated phenomena.
Topics: Amidohydrolases; Animals; Biotin; Biotinidase; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Diet; History, 20th Century; Humans; Ligases; Metabolism, Inborn Errors; Mitochondria; Mutation; Nutritional Requirements; Pyruvate Carboxylase Deficiency Disease | 1986 |
39 other study(ies) available for biotin and Ataxia with Lactic Acidosis 2
Article | Year |
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Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
Topics: Alopecia; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Fatty Acids, Unsaturated; Humans; Infant; Ligases; Male; Methylmalonyl-CoA Decarboxylase; Propionates; Pyruvate Carboxylase Deficiency Disease | 1980 |
Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
Topics: Acetyl-CoA Carboxylase; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Fibroblasts; Humans; Ligases; Methylmalonyl-CoA Decarboxylase; Propionates; Pyruvate Carboxylase Deficiency Disease | 1981 |
Defective biotin absorption in multiple carboxylase deficiency.
Topics: Acyl Coenzyme A; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Humans; Infant; Ligases; Male; Metabolism, Inborn Errors; Propionates; Pyruvate Carboxylase Deficiency Disease | 1981 |
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
Topics: Amniocentesis; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Female; Fetal Blood; Fetus; Follow-Up Studies; Humans; Infant; Infant, Newborn; Kinetics; Ligases; Male; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Methylmalonyl-CoA Decarboxylase; Pregnancy; Pyruvate Carboxylase Deficiency Disease | 1982 |
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 |
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 |
[3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency.
Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Cell Line; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Humans; Immunosorbent Techniques; Ligases; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1983 |
Inborn errors of pyruvate metabolism.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Acetyltransferases; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Cells, Cultured; Dihydrolipoamide Dehydrogenase; Dihydrolipoyllysine-Residue Acetyltransferase; Humans; Ketone Oxidoreductases; L-Lactate Dehydrogenase; Ligases; Methylmalonyl-CoA Decarboxylase; Multienzyme Complexes; Pyruvate Carboxylase Deficiency Disease; Pyruvate Dehydrogenase Complex; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvates | 1983 |
The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.
Topics: Biotin; Cells, Cultured; Chemical Precipitation; Cross Reactions; Electrophoresis, Polyacrylamide Gel; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Male; Molecular Weight; Mutation; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease; Pyruvate Dehydrogenase Complex; Skin; Syndrome | 1984 |
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Carbon Ligases; Carboxy-Lyases; Child, Preschool; Female; Humans; Infant; Kidney; Ligases; Male; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease | 1984 |
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 |
Evidence for two genetic complementation groups in pyruvate carboxylase-deficient human fibroblast cell lines.
Topics: Biotin; Cell Fusion; Cells, Cultured; Child; Fibroblasts; Genetic Complementation Test; Humans; Hybrid Cells; Kinetics; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1980 |
Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.
Topics: Acidosis; Alopecia; Ataxia; Biotin; Carbon-Carbon Ligases; Child, Preschool; Female; Humans; Ligases; Pyruvate Carboxylase Deficiency Disease; Seizures | 1981 |
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Electroencephalography; Humans; Infant, Newborn; Ligases; Male; Methylmalonyl-CoA Decarboxylase; Propionates; Pyruvate Carboxylase Deficiency Disease; Tomography, X-Ray Computed | 1981 |
Two forms of biotin-responsive multiple carboxylase deficiency.
Topics: Acute Disease; Biotin; Carbon-Carbon Ligases; Chronic Disease; Fibroblasts; Humans; Hydroxy Acids; Infant; Lactates; Lactic Acid; Ligases; Lymphocytes; Pyruvate Carboxylase Deficiency Disease; Valerates | 1981 |
Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Fibroblasts; Genetic Complementation Test; Humans; Kinetics; Ligases; Methylmalonyl-CoA Decarboxylase; Propionates; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease; Reference Values | 1981 |
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 |
Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency.
Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Diseases in Twins; Female; Fetal Diseases; Humans; Infant, Newborn; Ligases; Male; Methylmalonyl-CoA Decarboxylase; Pregnancy; Propionates; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1982 |
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
Topics: Adult; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Child; Genes, Recessive; Humans; Ligases; Metabolism, Inborn Errors; Methylmalonyl-CoA Decarboxylase; Pedigree; Pyruvate Carboxylase Deficiency Disease | 1982 |
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
Topics: Acidosis; Age Factors; Biotin; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Carboxy-Lyases; Cells, Cultured; Child, Preschool; Female; Fibroblasts; Humans; Infant; Intestinal Absorption; Lactates; Lactic Acid; Ligases; Lymphocytes; Male; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease | 1982 |
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.
Topics: Biotin; Carbon-Carbon Ligases; Crotonates; Humans; Infant; Intestinal Absorption; Kidney; Ligases; Propionates; Pyruvate Carboxylase Deficiency Disease | 1982 |
MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.
Topics: Biotin; Brain; Brain Diseases, Metabolic; Child; Child, Preschool; Consanguinity; Fibroblasts; Follow-Up Studies; Humans; Infant; Infant, Newborn; Lymphocytes; Magnetic Resonance Imaging; Male; Neurologic Examination; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1994 |
Primary amino acid sequence and structure of human pyruvate carboxylase.
Topics: Amino Acid Sequence; Base Sequence; Biotin; DNA, Complementary; Gene Library; Humans; Liver; Molecular Sequence Data; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease; Restriction Mapping; RNA, Messenger | 1994 |
Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency.
Topics: Binding Sites; Biotin; Child; Female; Humans; Lactic Acid; Male; Molecular Sequence Data; Mutation; Pedigree; Protein Binding; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease; Respiratory Function Tests | 1997 |
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
Topics: Acetyl-CoA Carboxylase; Adolescent; Age of Onset; Biotin; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Carboxy-Lyases; Cells, Cultured; Child; Female; Fibroblasts; Follow-Up Studies; Humans; Infant; Infant, Newborn; Ligases; Male; Metabolism, Inborn Errors; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1997 |
Some biochemical observations on biotin deficiency in the rat as a model for human pyruvate carboxylase deficiency.
Topics: Amino Acids; Animals; Biotin; Brain; Carboxylic Acids; Disease Models, Animal; Fatty Acids; Female; Humans; Liver; Male; Maternal-Fetal Exchange; Organ Size; Pregnancy; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease; Rats | 1979 |
Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.
Topics: Acidosis; Acyl Coenzyme A; Apoenzymes; Biotin; Carbon Dioxide; Carbon-Carbon Ligases; Cells, Cultured; Crotonates; Fibroblasts; Genetic Complementation Test; Humans; Ligases; Propionates; Pyruvate Carboxylase Deficiency Disease | 1979 |
Pyruvicacidemia.
Topics: Biotin; Humans; Infant; Male; Pyruvate Carboxylase Deficiency Disease | 1990 |
Enzyme studies in combined carboxylase deficiency.
Topics: Acetyl-CoA Carboxylase; Amidohydrolases; Biotin; Biotinidase; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Carboxy-Lyases; Cells, Cultured; Fibroblasts; Humans; Kinetics; Ligases; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease | 1985 |
Biotin-reversible neurodegenerative disease in infancy.
Topics: Acidosis; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Failure to Thrive; Female; Humans; Infant; Ligases; Methylmalonyl-CoA Decarboxylase; Muscular Diseases; Myoclonus; Pyruvate Carboxylase Deficiency Disease | 1986 |
The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.
Topics: Bacterial Proteins; Biotin; Cells, Cultured; DNA; Female; Fibroblasts; France; Humans; Male; North America; Phenotype; Proteins; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease; Streptavidin | 1987 |
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
Topics: Acyl Coenzyme A; Adult; Amidohydrolases; Biotin; Biotinidase; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Cells, Cultured; Child, Preschool; Diagnosis, Differential; Fibroblasts; Humans; Infant; Ligases; Lymphocytes; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1985 |
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
Topics: Biotin; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Carboxy-Lyases; Drug Resistance; Enzyme Activation; Female; Fibroblasts; Genetic Variation; Humans; Infant; Infant, Newborn; Kinetics; Ligases; Lymphocytes; Male; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease | 1985 |
Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases).
Topics: Biotin; Carboxy-Lyases; Cloning, Molecular; Humans; Methionine; Methylmalonyl-CoA Decarboxylase; Mutation; Propionates; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease | 1985 |
Biotinidase deficiency.
Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Carbon Ligases; Carboxy-Lyases; Female; Fetal Diseases; Humans; Ligases; Methylmalonyl-CoA Decarboxylase; Pregnancy; Prenatal Diagnosis; Pyruvate Carboxylase Deficiency Disease | 1985 |
Prenatal treatment of multiple carboxylase deficiency.
Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Female; Fetal Diseases; Humans; Ligases; Methylmalonyl-CoA Decarboxylase; Pregnancy; Prenatal Diagnosis; Pyruvate Carboxylase Deficiency Disease | 1985 |
Biotin status of epileptics.
Topics: Adult; Anticonvulsants; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Epilepsy; Female; Humans; Lactates; Lactic Acid; Ligases; Long-Term Care; Male; Methylmalonyl-CoA Decarboxylase; Middle Aged; Pyruvate Carboxylase Deficiency Disease | 1985 |
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Carbon Ligases; Carboxy-Lyases; Humans; Infant; Infant, Newborn; Intestinal Absorption; Ligases; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease; Time Factors | 1985 |
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Female; Humans; Infant; Lactates; Lactic Acid; Ligases; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease; Valerates | 1985 |