Page last updated: 2024-09-05

biotin and Metabolism, Inborn Errors

biotin has been researched along with Metabolism, Inborn Errors in 68 studies

Research

Studies (68)

Timeframe	Studies, this research(%)	All Research%
pre-1990	37 (54.41)	18.7374
1990's	14 (20.59)	18.2507
2000's	12 (17.65)	29.6817
2010's	4 (5.88)	24.3611
2020's	1 (1.47)	2.80

Authors

Authors	Studies
Bendavid, C; Damaj, L; Lefèvre, CR; Moreau, C; Peltier, L; Valaize, J	1
Cestari, DM; Eichler, FS; Hunt, AL; Rapalino, O; Swoboda, KJ	1
León-Del-Río, A	1
Wolf, B	2
Corella, JA; Díaz-Ruiz, R; Hernández-Vázquez, Ade J; Ibarra-González, I; Ochoa-Ruiz, E; Ortega-Cuéllar, D; Ortiz-Plata, A; Rembao, D; Uribe-Carvajal, S; Velázquez-Arellano, A; Viollet, B	1
Kluijtmans, LAJ; Koene, S; Mock, D; Morava, E; Pasch, M; Wevers, R	1
Velázquez, A	1
Endreffy, E; Havass, Z; Jansen, KP; László, A; Sallay, E; Schuler, EA; Somogyi, C; Várkonyi, A; Wolf, B	1
Bahi-Buisson, N; de Lonlay, P; Desguerre, I; Dulac, O; Kaminska, A; Léger, PL; Mention, K; Nabbout, R; Plouin, P; Valayanopoulos, V	1
Velázquez-Arellano, A	1
Baumgartner, ER; Baumgartner, MR; Feyh, P; Fowler, B; Friebel, D; Hahn, G; Heubner, G; Hoffmann, GF; von der Hagen, M	1
de la Sierra García-Valdecasas, M; del Portal, LR; Delgado, C; Jiménez, LM; Macías, C; Pérez, M	1
Cazenave, C; Charpentier, C; Coude, FX; Frézal, J; Labarthe, JC; Laugier, J; Marsac, C; Munnich, A; Ogier, H; Roccichioli, F; Saudubray, JM	1
Carré, G; Charpentier, C; Coudé, FX; Frézal, J; Munnich, A; Ogier, H; Saudubray, JM	1
Bartlett, K; Dale, G; Green, A; Leonard, JV; Ng, H	1
Suchy, SF; Wolf, B	1
Baker, H; Burri, BJ; Caswell, NM; Cowan, MJ; Golbus, MS; Nyhan, WL; Packman, S; Sweetman, L	1
Feldman, GL; Wolf, B	1
Bartlett, K	1
Klevay, LM	1
Bachmann, C; Baumgartner, R; Caflisch, U; Schubiger, G; Suormala, T	1
Baker, H; Caswell, NM; Packman, S	1
Fleisher, LD; Gaull, GE	1
Malaguzzi Valeri, C	1
Duthie, M; Gravel, RA; Saunders, ME; Sherwood, WG; Surh, L	1
Bourgeay-Causse, M; Carrĕ, G; Charpentier, C; Cotisson, A; Coudĕ, FX; Frĕzal, J; Marsac, C; Munnich, A; Ogier, H; Saudubray, JM	1
Packman, S; Sander, JE; Townsend, JJ	1
Allan, L; Dakshinamurti, K; Foreman, JW; Roth, KS; Yang, W	1
Sheu, KF; Utter, MF	1
Baumgartner, ER; Duran, M; Fuchshuber, A; Michalk, D; Roth, B; Suormala, T	1
Berry, SA; Nyhan, WL; Thuy, LP; Tuchman, M	1
Aoki, Y; Li, X; Miyabayashi, S; Narisawa, K; Ohtake, A; Ohura, T; Sakamoto, O; Sakuta, R; Suzuki, Y; Takahashi, K	1
Baumgartner, ER; Lehnert, W; Niederhoff, H; Suormala, T	1
Baumgartner, R; Baur, B; Burtscher, A; Duran, M; Fowler, B; Fuchshuber, A; Lenze, MJ; Raab, K; Suormala, T; Tratzmüller, R; Wick, H	1
Dalton, RN; Pike, MG; Rahman, S; Standing, S	1
Baumgartner, ER; Duran, M; Fowler, B; Jakobs, C; Lehnert, W; Raab, K; Suormala, T; Wick, H	1
Baumgartner, ER; Baur, B; Bernoulli, C; Suormala, T	1
Alonso-Fernández, JR; Castiñeiras, DE; Couce Pico, ML; Fraga, JM; Martinón-Torres, F	1
Baumgartner, ER; Suormala, T	1
Baykal, T; Coskun, T; Demirkol, M; Hüner, G; Ozalp, I; Pomponio, RJ; Tokatli, A; Wolf, B	1
Gulati, S; Kabra, M; Kalra, V; Kumar, A; Passi, GR; Verma, IC	1
Ito, M; Kuroda, Y; Naito, E	1
Baumgartner, ER; Möslinger, D; Mühl, A; Plecko, B; Scheibenreiter, S; Seidl, R; Stöckler-Ipsiroglu, S; Strobl, W; Suormala, T; Tiefenthaler, M	1
Ballard, TD; Griffin, JB; Stanley, JS; van Calcar, S; Wolff, J; Zempleni, J	1
Ammann, AJ; Cowan, MJ; Nyhan, W; Packman, S; Sweetman, L; Wara, DW; Yoshino, M	1
Bartlett, K; Charles, BM; Green, A; Hosking, G; Pollitt, R; Taitz, LS	1
Bonjour, JP	1
Rosenberg, LE	1
Mock, DM	1
Bhardwaj, B; Rybak, LP; Scott, V; Weberg, AD; Whitworth, C	1
Baumgartner, ER; Scheibenreiter, S; Schweitzer, S; Suormala, TM; Wick, H	1
Blitzer, MG; Ebers, DD; Hart, PS; Lawler, M; Levy, HL; McVoy, JR; Pettit, DD; Schmidt, MA; Wolf, B	1
Fitch, M; Fleming, SE; Packman, S; Whitney, SC	1
Williams, ML	1
Arts, WF; Busch, HF; Luyt-Houwen, IE; Przyrembel, H; Scholte, HR; Vaandrager-Verduin, MH	1
Blom, W; Fernandes, J; Huijmans, JG; Przyrembel, H; Sanders-Woudstra, JA; Scholte, HR; van den Berg, GB	1
Nyhan, WL; Sweetman, L	1
Bartlett, K; Chan, PW	1
Nyhan, WL	2
Heard, GS; Jefferson, LG; Nance, WE; Proud, VK; Weissbecker, KA; Wolf, B	1
Ferguson-Smith, MA; Ferguson-Smith, ME; Gompertz, D; Goodey, PA; MacLean, MV; Russell, G; Thom, H	1
Balgobin, L; Barnes, ND; Gompertz, D; Hull, D	1
Gompertz, D	1

Reviews

18 review(s) available for biotin and Metabolism, Inborn Errors

Article	Year
Biotin in metabolism, gene expression, and human disease. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:4 Topics: Amino Acids; Biotin; Biotinidase; Biotinidase Deficiency; Carbon-Carbon Ligases; Gene Expression Regulation; Humans; Infant, Newborn; Metabolism, Inborn Errors; Multiple Carboxylase Deficiency	2019
[Neonatal epilepsy and inborn errors of metabolism]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2006, Volume: 13, Issue:3 Topics: Age Factors; Anticonvulsants; Biotin; Brain; Electroencephalography; Epilepsies, Myoclonic; Epilepsy; gamma-Aminobutyric Acid; Humans; Infant, Newborn; Leucovorin; Metabolism, Inborn Errors; Pyridoxine; Seizures; Time Factors; Vitamin B Complex	2006
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
Changing patterns of disease: some nutritional remarks. Journal of the American College of Nutrition, 1984, Volume: 3, Issue:2 Topics: Animals; Biotin; Copper; Deficiency Diseases; History, 19th Century; History, 20th Century; Humans; Metabolism, Inborn Errors; Nutrition Disorders; Nutritional Requirements; United States; Vitamins	1984
Enzyme manipulation by specific megavitamin therapy. Birth defects original article series, 1980, Volume: 16, Issue:1 Topics: Amino Acids; Biotin; Coenzymes; Enzymes; Folic Acid; Humans; Metabolism, Inborn Errors; Orthomolecular Therapy; Pyridoxine; Thiamine; Vitamin B 12	1980
[Vitamins in metabolic diseases]. Acta vitaminologica et enzymologica, 1981, Volume: 3, Issue:1 Topics: Biotin; Dose-Response Relationship, Drug; Folic Acid; Humans; Metabolism, Inborn Errors; Niacin; Nicotinic Acids; Pyridoxine; Thiamine; Vitamin B 12; Vitamin D; Vitamins	1981
Inherited defects of biotin metabolism. BioFactors (Oxford, England), 1999, Volume: 10, Issue:2-3 Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Nitrogen Ligases; Humans; Metabolism, Inborn Errors	1999
[Vitamin dependency syndrome]. Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4 Topics: Biotin; Diagnosis, Differential; Folic Acid; Humans; Metabolism, Inborn Errors; Nervous System Diseases; Prognosis; Pyridoxine; Syndrome; Thiamine; Vitamin B 12; Vitamin D; Vitamin E Deficiency	2000
Biotin in man's nutrition and therapy -- a review. International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition, 1977, Volume: 47, Issue:2 Topics: Biotin; Death, Sudden; Dermatitis, Seborrheic; Diet; Female; Humans; Infant Mortality; Lactation; Liver Diseases; Metabolism, Inborn Errors; Nutritional Physiological Phenomena; Pregnancy; Stomach Diseases	1977
Multiple biotin-dependent carboxylase deficiencies associated with defects in immunity. Nutrition reviews, 1979, Volume: 37, Issue:9 Topics: Apoenzymes; Biotin; Candidiasis, Cutaneous; Carboxy-Lyases; Female; Humans; Immunity, Cellular; Immunologic Deficiency Syndromes; Infant; Metabolism, Inborn Errors	1979
Vitamin-responsive inherited metabolic disorders. Advances in human genetics, 1976, Volume: 6 Topics: Adolescent; Adult; Anemia, Megaloblastic; Avitaminosis; Biological Transport; Biotin; Carrier Proteins; Child; Child, Preschool; Coenzymes; Female; Folic Acid; Folic Acid Deficiency; Genetic Linkage; Humans; Infant; Infant, Newborn; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Phenotype; Sex Chromosomes; Thiamine Deficiency; Vitamin B 6 Deficiency; Vitamin B Deficiency; Vitamin D Deficiency; Vitamins	1976
Skin manifestations of biotin deficiency. Seminars in dermatology, 1991, Volume: 10, Issue:4 Topics: Adult; Biotin; Child; Humans; Infant; Metabolism, Inborn Errors; Skin Diseases	1991
Biotin-responsive multiple carboxylase deficiency and immunodeficiency. Current problems in dermatology, 1989, Volume: 18 Topics: Amidohydrolases; Biotin; Biotinidase; Carboxy-Lyases; Humans; Immunologic Deficiency Syndromes; Metabolism, Inborn Errors	1989
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
Multiple carboxylase deficiency. The International journal of biochemistry, 1988, Volume: 20, Issue:4 Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Nitrogen Ligases; Humans; Ligases; Metabolism, Inborn Errors; Multiple Carboxylase Deficiency	1988
Inborn errors of biotin metabolism. Archives of dermatology, 1987, Volume: 123, Issue:12 Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Nitrogen Ligases; Humans; Infant; Infant, Newborn; Ligases; Metabolism, Inborn Errors; Multiple Carboxylase Deficiency; Nervous System Diseases; Skin Diseases	1987
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

Trials

1 trial(s) available for biotin and Metabolism, Inborn Errors

Article	Year
Novel mutations cause biotinidase deficiency in Turkish children. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:2 Topics: Amidohydrolases; Biotin; Biotinidase; Child; Consanguinity; DNA; DNA Mutational Analysis; Humans; Infant, Newborn; Metabolism, Inborn Errors; Mutation; Neonatal Screening; Turkey	2000

Other Studies

49 other study(ies) available for biotin and Metabolism, Inborn Errors

Article	Year
Immunoassay Disruption by High-Dose Biotin Therapy: Fair Warning for Neonatal Care Physicians. Pediatric neurology, 2020, Volume: 112 Topics: Biotin; Humans; Immunoassay; Infant, Extremely Premature; Infant, Newborn; Infant, Premature, Diseases; Metabolism, Inborn Errors; Vitamin B Complex	2020
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. The New England journal of medicine, 2017, Dec-14, Volume: 377, Issue:24 Topics: Basal Ganglia Diseases; Biotin; Brain; Carbidopa; Diagnosis, Differential; Drug Combinations; Dystonia; Female; Humans; Levodopa; Macula Lutea; Magnetic Resonance Imaging; Membrane Transport Proteins; Metabolism, Inborn Errors; Mutation; Optic Nerve; Seizures; Thiamine; Young Adult	2017
High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders. Molecular genetics and metabolism, 2019, Volume: 127, Issue:4 Topics: Avidin; Biotin; Diagnostic Errors; False Positive Reactions; Humans; Immunoassay; Metabolism, Inborn Errors	2019
Biotin deprivation impairs mitochondrial structure and function and has implications for inherited metabolic disorders. Molecular genetics and metabolism, 2015, Volume: 116, Issue:3 Topics: Animals; Biotin; Carbon-Nitrogen Ligases; Carnitine; Cells, Cultured; Citric Acid Cycle; Electron Transport Complex IV; Energy Metabolism; Interleukin-6; Metabolism, Inborn Errors; Mice, Knockout; Mitochondria; Mitophagy; Oxidative Phosphorylation; Pyruvate Carboxylase; Rats	2015
Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay. Clinical dysmorphology, 2008, Volume: 17, Issue:3 Topics: Abnormalities, Multiple; Aging, Premature; Biotin; Child, Preschool; Developmental Disabilities; Ectoderm; Female; Glycine; Growth Disorders; Humans; Metabolism, Inborn Errors	2008
The rise and fall and (urgently needed) rebirth of metabolic medicine. Donough O'Brien Presidential Address Society for Inherited Metabolic Disorders, Asilomar, CA, 5 March 2002. Molecular genetics and metabolism, 2002, Volume: 76, Issue:4 Topics: Biotin; Forecasting; Metabolism, Inborn Errors; Molecular Biology	2002
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. Journal of inherited metabolic disease, 2003, Volume: 26, Issue:7 Topics: Alleles; Biotin; Biotinidase; DNA; DNA Mutational Analysis; Female; Humans; Hungary; Infant, Newborn; Male; Metabolism, Inborn Errors; Mutation, Missense; Neonatal Screening; Roma	2003
From an inborn error patient to a search for regulatory meaning: a biotin conducted voyage. Molecular genetics and metabolism, 2006, Volume: 87, Issue:3 Topics: Animals; Biotin; History, 20th Century; Humans; Infant; Metabolism, Inborn Errors; Multiple Carboxylase Deficiency; Rats; Saccharomyces cerevisiae	2006
The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Neuropediatrics, 2006, Volume: 37, Issue:2 Topics: Biotin; Carbon-Carbon Ligases; Child; Child, Preschool; Follow-Up Studies; Humans; Male; Metabolism, Inborn Errors; Mutation, Missense; Treatment Outcome; Vitamin B Complex	2006
Subacute presentation of propionic acidemia. Journal of child neurology, 2007, Volume: 22, Issue:12 Topics: Acidosis; Amino Acids; Biotin; Brain; Carnitine; Diagnosis, Differential; Diet, Protein-Restricted; Disease Progression; Electrophoresis, Capillary; Gastroenteritis; Growth Disorders; Humans; Infant; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Propionates; Propionic Acidemia; Treatment Outcome; Vomiting	2007
Biotin deficiency. Lancet (London, England), 1981, May-30, Volume: 1, Issue:8231 Topics: Animals; Biotin; Deficiency Diseases; Humans; Infant; Metabolism, Inborn Errors; Rats	1981
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]. Archives francaises de pediatrie, 1981, Volume: 38, Issue:2 Topics: Acetyl-CoA Carboxylase; Apoproteins; Biotin; Carbon-Nitrogen Ligases; Diagnosis, Differential; Female; Humans; Infant; Ligases; Male; Metabolism, Inborn Errors	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
Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation. Journal of inherited metabolic disease, 1981, Volume: 4, Issue:4 Topics: Acetyl-CoA Carboxylase; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Cells, Cultured; Child; Fibroblasts; Humans; Infant; Infant, Newborn; Kinetics; Ligases; Metabolism, Inborn Errors; Methylmalonyl-CoA Decarboxylase; Propionates; Skin	1981
Protein-bound biotin: a consideration in multiple carboxylase deficiency. Lancet (London, England), 1982, Jan-09, Volume: 1, Issue:8263 Topics: Adult; Age Factors; Biotin; Blood Proteins; Carboxy-Lyases; Humans; Infant, Newborn; Metabolism, Inborn Errors; Protein Binding	1982
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
Biotinidase deficiency: clinical course and biochemical findings. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:3 Topics: Amidohydrolases; Amino Acids; Biotin; Biotinidase; Carboxylic Acids; Follow-Up Studies; Humans; Infant; Male; Metabolism, Inborn Errors	1984
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
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. American journal of human genetics, 1982, Volume: 34, Issue:4 Topics: Biotin; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Carboxy-Lyases; Cells, Cultured; Female; Fibroblasts; Genetic Complementation Test; Humans; In Vitro Techniques; Infant; Ligases; Lymphocytes; Metabolism, Inborn Errors; Methylmalonyl-CoA Decarboxylase	1982
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis. European journal of pediatrics, 1981, Volume: 137, Issue:2 Topics: Acidosis; Biotin; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Lactates; Ligases; Metabolism, Inborn Errors	1981
Brain pyruvate carboxylase and the pathophysiology of biotin-dependent diseases. Neurology, 1982, Volume: 32, Issue:8 Topics: Animals; Biotin; Brain; Brain Chemistry; Brain Stem; Cerebellum; Liver; Metabolism, Inborn Errors; Pyruvate Carboxylase; Rabbits; Rats	1982
Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency. Clinica chimica acta; international journal of clinical chemistry, 1981, Feb-05, Volume: 109, Issue:3 Topics: Apoproteins; Biotin; Carbon-Nitrogen Ligases; Humans; Infant; Ligases; Male; Metabolism, Inborn Errors	1981
Biochemical mechanisms of biotin and thiamin action and relationships to genetic disease. Birth defects original article series, 1980, Volume: 16, Issue:1 Topics: Animals; Apoenzymes; Biotin; Carboxy-Lyases; Carboxylic Ester Hydrolases; Chickens; Fatty Liver; Humans; Kidney Diseases; Metabolism, Inborn Errors; Protein Binding; Pyruvate Dehydrogenase Complex; Thiamine; Thiamine Pyrophosphate	1980
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. European journal of pediatrics, 1993, Volume: 152, Issue:5 Topics: Biotin; Carbon-Nitrogen Ligases; Female; Humans; Infant, Newborn; Ligases; Metabolism, Inborn Errors; Peritoneal Dialysis	1993
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics, 1993, Volume: 91, Issue:3 Topics: Biotin; Carbon-Carbon Ligases; Failure to Thrive; Gastrointestinal Diseases; Glycine; Humans; Infant; Ligases; Male; Metabolism, Inborn Errors; Muscle Hypertonia; Valerates	1993
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. Biochimica et biophysica acta, 1995, Dec-12, Volume: 1272, Issue:3 Topics: Amino Acid Sequence; Base Sequence; Biotin; Blotting, Western; Carbon-Nitrogen Ligases; DNA Primers; Female; Genotype; Heterozygote; Homozygote; Humans; Infant, Newborn; Japan; Ligases; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Pedigree; Point Mutation; Sequence Analysis; Sequence Deletion; Transfection	1995
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. European journal of pediatrics, 1996, Volume: 155, Issue:7 Topics: Age of Onset; Biotin; Carbon-Carbon Ligases; Developmental Disabilities; Diet, Protein-Restricted; Epilepsy, Generalized; Humans; Infant, Newborn; Ligases; Male; Metabolism, Inborn Errors; Patient Compliance; Valerates	1996
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
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. Developmental medicine and child neurology, 1997, Volume: 39, Issue:12 Topics: Amidohydrolases; Biotin; Biotinidase; Child, Preschool; Female; Gait; Humans; Metabolism, Inborn Errors; Optic Atrophy; Treatment Outcome; Vision Disorders	1997
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. European journal of pediatrics, 1998, Volume: 157, Issue:7 Topics: Biotin; Carbon-Nitrogen Ligases; Female; Fetal Diseases; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pregnancy; Prenatal Diagnosis	1998
Biotin determination by three different methods: specificity and application to urine and plasma ultrafiltrates of patients with and without disorders in biotin metabolism. International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition, 1998, Volume: 68, Issue:5 Topics: Administration, Oral; Biotin; Carbon-Carbon Ligases; Cells, Cultured; Child; Chromatography, High Pressure Liquid; Enzyme Activation; Fibroblasts; Humans; Metabolism, Inborn Errors; Sensitivity and Specificity; Ultrafiltration	1998
[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]. Anales espanoles de pediatria, 1999, Volume: 50, Issue:5 Topics: Amidohydrolases; Biotin; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Point Mutation; Time Factors	1999
Biotinidase deficiency--a treatable entity. Indian journal of pediatrics, 2000, Volume: 67, Issue:6 Topics: Amidohydrolases; Biotin; Biotinidase; Humans; Infant; Male; Metabolism, Inborn Errors; Nervous System Diseases; Prognosis	2000
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. European journal of pediatrics, 2001, Volume: 160, Issue:5 Topics: Adolescent; Adult; Amidohydrolases; Austria; Biotin; Biotinidase; Child; Child, Preschool; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Lysine; Male; Metabolism, Inborn Errors; Neonatal Screening; Treatment Outcome	2001
Biotinidase catalyzes debiotinylation of histones. European journal of nutrition, 2002, Volume: 41, Issue:2 Topics: Amidohydrolases; Biotin; Biotinidase; Biotinylation; Catalysis; Histones; Humans; Hydrogen-Ion Concentration; Lymphocytes; Metabolism, Inborn Errors; Plasma	2002
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet (London, England), 1979, Jul-21, Volume: 2, Issue:8134 Topics: Alopecia; B-Lymphocytes; Biotin; Candidiasis, Cutaneous; Carboxy-Lyases; Cerebellar Ataxia; Child, Preschool; Female; Humans; Immunologic Deficiency Syndromes; Infant; Keratoconjunctivitis; Male; Metabolism, Inborn Errors; T-Lymphocytes	1979
Biotin-responsive alopecia and developmental regression. Lancet (London, England), 1979, Jul-21, Volume: 2, Issue:8134 Topics: Alopecia; Biotin; Carbon Dioxide; Crotonates; Dermatitis; Humans; Infant; Ligases; Male; Metabolism, Inborn Errors; Muscle Hypotonia	1979
Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases. Biochemical genetics, 1979, Volume: 17, Issue:7-8 Topics: Biotin; Carboxy-Lyases; Coenzyme A; Fibroblasts; Humans; Metabolism, Inborn Errors; Propionates; Stimulation, Chemical	1979
Rat as a potential model for hearing loss in biotinidase deficiency. The Annals of otology, rhinology, and laryngology, 1991, Volume: 100, Issue:4 Pt 1 Topics: Amidohydrolases; Animals; Biotin; Biotinidase; Disease Models, Animal; Evoked Potentials, Auditory, Brain Stem; Female; Genes, Recessive; Hair Cells, Auditory; Hearing Loss, Sensorineural; Male; Metabolism, Inborn Errors; Microscopy, Electron, Scanning; Organ of Corti; Rats; Rats, Inbred Strains	1991
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:1 Topics: Acids; Adolescent; Adult; Amidohydrolases; Biotin; Biotinidase; Child, Preschool; Fatty Acids; Female; Humans; Infant; Infant, Newborn; Lymphocytes; Lysine; Male; Metabolism, Inborn Errors; Multiple Carboxylase Deficiency	1990
Partial biotinidase deficiency: clinical and biochemical features. The Journal of pediatrics, 1990, Volume: 116, Issue:1 Topics: Adult; Amidohydrolases; Biotin; Biotinidase; Child; Child, Preschool; Female; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Neonatal Screening; Parents; Pedigree	1990
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:1 Topics: Biotin; Cell Line; Fatty Acids; Fibroblasts; Humans; Ligases; Metabolism, Inborn Errors; Mutation	1989
Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells. Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1 Topics: Adolescent; Adult; Biotin; Brain; Carnitine; Cells, Cultured; Child, Preschool; Coenzyme A; Cytochrome-c Oxidase Deficiency; Electron Transport Complex III; Female; Fibroblasts; Humans; Infant; Male; Metabolism, Inborn Errors; Mitochondria; Mitochondria, Liver; Mitochondria, Muscle; Mitochondrial ADP, ATP Translocases; NAD(P)H Dehydrogenase (Quinone); Oxidative Phosphorylation; Quinone Reductases	1987
Neurologic action of megadoses of vitamins. Bibliotheca nutritio et dieta, 1986, Issue:38 Topics: Adult; Biotin; Child; Female; Humans; Infant; Infant, Newborn; Ligases; Male; Metabolism, Inborn Errors; Middle Aged; Nervous System Diseases; Niacinamide; Orthomolecular Therapy; Pedigree; Vitamin B 12	1986
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. Clinica chimica acta; international journal of clinical chemistry, 1986, Sep-15, Volume: 159, Issue:2 Topics: Amidohydrolases; Biological Assay; Biotin; Biotinidase; Clinical Laboratory Techniques; Humans; Lysine; Metabolism, Inborn Errors; Radioligand Assay	1986
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. The New England journal of medicine, 1985, Jul-04, Volume: 313, Issue:1 Topics: Amidohydrolases; Biotin; Biotinidase; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Neurologic Manifestations; Pilot Projects; Skin Manifestations; Virginia	1985
Antenatal diagnosis of propianicacidaemia. Lancet (London, England), 1973, May-05, Volume: 1, Issue:7810 Topics: Amino Acids; Amniocentesis; Amniotic Fluid; Biotin; Carboxy-Lyases; Coenzyme A; Diet Therapy; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Pregnancy; Prenatal Diagnosis; Propionates	1973
Biotin-responsive propionicacidaemia. Lancet (London, England), 1970, Aug-01, Volume: 2, Issue:7666 Topics: Acidosis; Biotin; Carboxy-Lyases; Child, Preschool; Chromatography, Gas; Diet Therapy; Glycine; Humans; Isoleucine; Ketones; Ligases; Male; Metabolism, Inborn Errors; Phosphotransferases; Propionates	1970
Vitamin dependency syndromes. The Medical journal of Australia, 1972, Jan-22, Volume: 1, Issue:4 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