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biotin and Ataxia with Lactic Acidosis 2

biotin has been researched along with Ataxia with Lactic Acidosis 2 in 45 studies

Research

Studies (45)

TimeframeStudies, this research(%)All Research%
pre-199040 (88.89)18.7374
1990's5 (11.11)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Charpentier, C; Coude, FX; Frezal, J; Munnich, A; Saudubray, JM; Saurat, JH1
Feldman, GL; Wolf, B3
Carré, G; Charpentier, C; Coudé, FX; Frézal, J; Munnich, A; Ogier, H; Saudubray, JM1
Roth, KS2
Baker, H; Burri, BJ; Caswell, NM; Cowan, MJ; Golbus, MS; Nyhan, WL; Packman, S; Sweetman, L1
Arai, N; Hirooka, Y; Igarashi, Y; Narisawa, K; Satoh, T; Tada, K1
Bartlett, K1
Miyabayashi, S; Narisawa, K; Ohtake, M; Tada, K; Takada, G1
Gravel, R; Oei, J; Robinson, BH; Saunders, M1
Robinson, BH1
Applegarth, D; Casey, R; Goodyer, P; Haworth, J; Oei, J; Robinson, BH; Sherwood, WG; Wong, L; Zaleski, LA1
Baumgartner, ER; Bonjour, JP; Suormala, T; Wick, H3
Bartlett, K; Leonard, JV; Ng, H1
Baker, H; Sweetman, L; Thoene, J; Yoshino, M1
Bart, RD; Boychuk, RB; Crowell, DH; Di Mauro, RM; Feldman, G; Hsia, YE; Nyhan, WL; Sweetman, L; Wolf, B1
Sweetman, L1
Feldman, GL; Hsia, YE; Wolf, B1
Burri, BJ; Nyhan, WL; Sweetman, L2
Allan, L; Dakshinamurti, K; Gravel, RA; Roth, KS; Saunders, M; Yang, W1
Baker, H; Caswell, NM; Packman, S1
Brewster, T; Gravel, RA; Robinson, BH; Saunders, M; Sherwood, WG1
Baumgartner, R; Geisert, J; Lehnert, W; Suormala, T; Wick, H1
Glasgow, AM; Higgins, JJ; Kerr, DS; Lusk, M1
Du, Y; Freytag, SO; Kerr, DS; Kwon, M; Lisgaris, MV; Liu, TC; Mandal, SK; Patel, MS; Wexler, ID; Yang, BS1
Higgins, JJ; Ide, SE; Oghalai, JS; Polymeropoulos, MH1
Baumgartner, R; Baur, B; Burtscher, A; Duran, M; Fowler, B; Fuchshuber, A; Lenze, MJ; Raab, K; Suormala, T; Tratzmüller, R; Wick, H1
Dias, T; Hommes, FA; Schrijver, J1
Cohn, R; Gravel, RA; Robinson, B; Roth, K; Saunders, M; Sweetman, L1
Ambani, LM; Apte, BN; Shah, SB; Tibrewala, VN1
Bartlett, K; Ghneim, HK; Leonard, JV; Sherratt, HS; Stirk, JH; Wastell, HJ1
Bonjour, JP1
Bartlett, K; Ghneim, HK; Stirk, HJ; Wastell, H1
Bartlett, K; Low, LC; Seakins, JW; Shaikh, SA; Stephenson, JB1
Nyhan, WL; Sweetman, L1
Bartlett, K; Gravel, R; Marsac, C; Oei, J; Quan, F; Robinson, BH; Saudubray, JM1
Gravel, RA; Robinson, BH1
Grier, RE; Heard, GS; McVoy, JR; Wolf, B1
Berlit, P; Bonjour, JP; Kochen, W; Krause, KH1
Erasmus, C; Mienie, LJ; Reinecke, CJ; Wadman, SK1

Reviews

6 review(s) available for biotin and Ataxia with Lactic Acidosis 2

ArticleYear
Biotin in clinical medicine--a review.
    The American journal of clinical nutrition, 1981, Volume: 34, Issue:9

    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.
    American journal of human genetics, 1982, Volume: 34, Issue:5

    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.
    Advances in clinical chemistry, 1983, Volume: 23

    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.
    Annals of the New York Academy of Sciences, 1985, Volume: 447

    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.
    Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1

    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.
    Annual review of nutrition, 1986, Volume: 6

    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

Other Studies

39 other study(ies) available for biotin and Ataxia with Lactic Acidosis 2

ArticleYear
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
    Lancet (London, England), 1980, May-17, Volume: 1, Issue:8177

    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.
    Clinica chimica acta; international journal of clinical chemistry, 1981, Apr-09, Volume: 111, Issue:2-3

    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.
    Lancet (London, England), 1981, Aug-01, Volume: 2, Issue:8240

    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.
    Lancet (London, England), 1982, Jun-26, Volume: 1, Issue:8287

    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.
    Journal of inherited metabolic disease, 1982, Volume: 5, Issue:2

    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.
    Journal of inherited metabolic disease, 1982, Volume: 5, Issue:2

    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.
    The Journal of biological chemistry, 1983, May-25, Volume: 258, Issue:10

    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.
    Biochemical Society transactions, 1983, Volume: 11, Issue:6

    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.
    American journal of human genetics, 1984, Volume: 36, Issue:2

    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.
    Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 2

    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.
    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
Evidence for two genetic complementation groups in pyruvate carboxylase-deficient human fibroblast cell lines.
    Biochemical genetics, 1980, Volume: 18, Issue:5-6

    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.
    The New England journal of medicine, 1981, Apr-02, Volume: 304, Issue:14

    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.
    Pediatrics, 1981, Volume: 68, Issue:1

    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.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    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.
    American journal of human genetics, 1981, Volume: 33, Issue:5

    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.
    The Journal of clinical investigation, 1981, Volume: 68, Issue:6

    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.
    Pediatric research, 1982, Volume: 16, Issue:2

    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.
    Biochemical genetics, 1982, Volume: 20, Issue:1-2

    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.
    The Journal of pediatrics, 1982, Volume: 101, Issue:4

    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.
    Helvetica paediatrica acta, 1982, Volume: 37, Issue:5

    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.
    Journal of child neurology, 1994, Volume: 9, Issue:4

    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.
    Biochimica et biophysica acta, 1994, Oct-21, Volume: 1227, Issue:1-2

    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.
    Clinical biochemistry, 1997, Volume: 30, Issue:1

    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.
    Pediatric research, 1997, Volume: 41, Issue:5

    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.
    Nutrition and metabolism, 1979, Volume: 23, Issue:3

    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.
    The Journal of clinical investigation, 1979, Volume: 64, Issue:6

    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.
    Indian pediatrics, 1990, Volume: 27, Issue:9

    Topics: Biotin; Humans; Infant; Male; Pyruvate Carboxylase Deficiency Disease

1990
Enzyme studies in combined carboxylase deficiency.
    Annals of the New York Academy of Sciences, 1985, Volume: 447

    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.
    Australian paediatric journal, 1986, Volume: 22, Issue:1

    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.
    American journal of human genetics, 1987, Volume: 40, Issue:1

    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.
    Clinica chimica acta; international journal of clinical chemistry, 1985, Jan-30, Volume: 145, Issue:2

    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.
    American journal of human genetics, 1985, Volume: 37, Issue:2

    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).
    Annals of the New York Academy of Sciences, 1985, Volume: 447

    Topics: Biotin; Carboxy-Lyases; Cloning, Molecular; Humans; Methionine; Methylmalonyl-CoA Decarboxylase; Mutation; Propionates; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Disease

1985
Biotinidase deficiency.
    Annals of the New York Academy of Sciences, 1985, Volume: 447

    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.
    Annals of the New York Academy of Sciences, 1985, Volume: 447

    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.
    Annals of the New York Academy of Sciences, 1985, Volume: 447

    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.
    European journal of pediatrics, 1985, Volume: 144, Issue:1

    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.
    Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 2

    Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Female; Humans; Infant; Lactates; Lactic Acid; Ligases; Methylmalonyl-CoA Decarboxylase; Pyruvate Carboxylase Deficiency Disease; Valerates

1985