Page last updated: 2024-09-05

biotin and Carboxylase Deficiency, Combined

biotin has been researched along with Carboxylase Deficiency, Combined in 43 studies

Research

Studies (43)

Timeframe	Studies, this research(%)	All Research%
pre-1990	11 (25.58)	18.7374
1990's	19 (44.19)	18.2507
2000's	9 (20.93)	29.6817
2010's	1 (2.33)	24.3611
2020's	3 (6.98)	2.80

Authors

Authors	Studies
Ahmed, S; Hamid, R; Jafri, L; Khan, AH; Majid, H; Muneer, S	1
Aamir, M; Bibi, A; Fatima, S	1
León-Del-Río, A	1
Hasegawa, Y; Ishiguro, A; Kohda, K; Mamada, Y; Murata, T; Nasuno, K; Suzuki, T; Taniguchi, A; Watanabe, T; Yamaguchi, S	1
Ito, T; Kurono, Y; Maeda, Y; Nakajima, Y; Sugiyama, N; Togari, H; Yokoi, K	1
Bouhasin, J; Knutsen, A; Puetz, J	1
Hou, JW	1
Cervantes-Roldán, R; Gravel, RA; León-Del-Río, A; Pacheco-Alvarez, D; Solórzano-Vargas, RS; Velázquez, A	1
Velázquez-Arellano, A	1
Brab, M; Heimann, G; Ramaekers, VT; Rau, G	1
Athappilly, FK; Hendrickson, WA	1
Campistol, J; Ribes, A; Riudor, E; Vilaseca, MA	1
Campeau, E; Dupuis, L; Gibson, KM; Gravel, RA; Herman, G; Leclerc, D; Leon-Del-Rio, A; Saudubray, JM; Sweetman, L	1
Betz, B; Kelley, R; Squires, L; Umfleet, J	1
Baumgartner, ER; Suormala, T	1
Andersen, JB; Christensen, E; Haagerup, A	1
Casado de Frías, E	1
Narisawa, K; Sakamoto, O	2
Hirasawa, A; Wakabayashi, Y	1
Aoki, Y; Hiratsuka, M; Inui, K; Kudoh, J; Li, X; Narisawa, K; Okabe, T; Sakamoto, O; Shimizu, N; Suzuki, Y; Yamaguchi, S; Yanagihara, K	1
Campeau, E; Dupuis, L; Gravel, RA; Leclerc, D	1
Mock, DM; Zempleni, J	1
Belmont, J; Nyhan, WL; Thuy, LP	1
Campos-Castelló, J; Careaga Maldonado, J; Casado de Frías, E; Pérez Cerdá, C	1
Yoshida, I	1
Wolf, B	1
Chiba, Y; Narisawa, K; Suzuki, Y; Tada, K	1
Heard, GS; Wolf, B	1
Baumgartner, ER; Scheibenreiter, S; Schweitzer, S; Suormala, TM; Wick, H	1
Baumgartner, ER; Krägeloh-Mann, I; Nothjunge, J; Suormala, TM	1
Park, K; Sasaki, M	1
Holme, E; Jacobson, CE; Kristiansson, B	1
Nyhan, WL	2
Bernardina, BD; Burlina, AB; Gaburro, D; Marchioro, MV; Sherwood, WG	1
Hommes, FA	1
Campana, G; Giovannucci-Uzielli, ML; Legnaioli, MI; Pavari, E; Valentini, G	1
Rizzo, WB; Suchy, SF; Wolf, B	1
Nyhan, WL; Pavari, E; Sweetman, F; Sweetman, L; Thuy, LP; Vierucci, A; Zammarchi, E; Zielinska, B	1

Reviews

12 review(s) available for biotin and Carboxylase Deficiency, Combined

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
[Biotinidase deficiency. Its form of presentation and response to treatment]. Anales espanoles de pediatria, 1996, Volume: 44, Issue:4 Topics: Acyltransferases; Amidohydrolases; Biotin; Biotinidase; Diagnosis, Differential; Humans; Infant; Male; Multiple Carboxylase Deficiency	1996
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition, 1997, Volume: 67, Issue:5 Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Nitrogen Ligases; Diagnosis, Differential; Humans; Multiple Carboxylase Deficiency	1997
[Multiple carboxylase deficiency]. Ugeskrift for laeger, 1998, Feb-16, Volume: 160, Issue:8 Topics: Biotin; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Multiple Carboxylase Deficiency	1998
[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Age of Onset; Biomarkers; Biotin; Carbon-Nitrogen Ligases; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Multiple Carboxylase Deficiency; Mutation; Prognosis	1998
[Biotinidase deficiency (late-onset multiple carboxylase deficiency)]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Age of Onset; Amidohydrolases; Biomarkers; Biotin; Biotinidase; Diagnosis, Differential; Humans; Multiple Carboxylase Deficiency; Prognosis	1998
[Biotin-dependent carboxylase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:21 Pt 2 Topics: Biotin; Humans; Multiple Carboxylase Deficiency	1998
[Biotin-responsive multiple carboxylase deficiency]. Ryoikibetsu shokogun shirizu, 2000, Issue:32 Topics: Biotin; Carboxy-Lyases; Diagnosis, Differential; Humans; Immune System Diseases; Ligases; Multiple Carboxylase Deficiency; Prognosis	2000
Biotinidase deficiency. Advances in pediatrics, 1991, Volume: 38 Topics: Amidohydrolases; Biotin; Biotinidase; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Multiple Carboxylase Deficiency; Neonatal Screening; Prenatal Diagnosis; Protein Deficiency	1991
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
Biotin. World review of nutrition and dietetics, 1986, Volume: 48 Topics: Adult; Animals; Biotin; Child; Humans; Infant, Newborn; Multiple Carboxylase Deficiency	1986

Trials

1 trial(s) available for biotin and Carboxylase Deficiency, Combined

Article	Year
Bioavailability of biotin given orally to humans in pharmacologic doses. The American journal of clinical nutrition, 1999, Volume: 69, Issue:3 Topics: Administration, Oral; Adult; Analysis of Variance; Biological Availability; Biotin; Cross-Over Studies; Dose-Response Relationship, Drug; Female; Humans; Injections, Intravenous; Male; Micronutrients; Multiple Carboxylase Deficiency	1999

Other Studies

30 other study(ies) available for biotin and Carboxylase Deficiency, Combined

Article	Year
Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2022, 02-25, Volume: 51, Issue:1 Topics: Biotin; Biotinidase Deficiency; Carbon-Nitrogen Ligases; Consensus; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Multiple Carboxylase Deficiency; Neonatal Screening	2022
Biotin-responsive Multiple Carboxylase Deficiency (MCD). Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2022, Volume: 32, Issue:6 Topics: Biotin; Female; Humans; Infant, Newborn; Male; Multiple Carboxylase Deficiency; Pakistan	2022
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2021, Volume: 31, Issue:1 Topics: Acidosis; Biotin; Child; Female; Holocarboxylase Synthetase Deficiency; Humans; Multiple Carboxylase Deficiency; Seizures	2021
[Biotin deficiency in amino acid formula nutrition for an infant with milk protein allergy]. Arerugi = [Allergy], 2008, Volume: 57, Issue:5 Topics: Amino Acids; Biotin; Biotinidase; Female; Humans; Infant; Infant Formula; Milk Hypersensitivity; Milk Proteins; Multiple Carboxylase Deficiency; Skin; Treatment Outcome	2008
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. Brain & development, 2009, Volume: 31, Issue:10 Topics: Acetylcarnitine; Biotin; Carnitine; Female; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Japan; Multiple Carboxylase Deficiency; Mutation; Pregnancy; Prenatal Diagnosis; Prenatal Exposure Delayed Effects	2009
Congenital deficiency of vitamin K-dependent coagulation factors associated with central nervous system anomalies. Thrombosis and haemostasis, 2004, Volume: 91, Issue:4 Topics: Arnold-Chiari Malformation; Biotin; Blood Coagulation Disorders; Blood Coagulation Factors; Central Nervous System Diseases; Factor IX; Factor VII; Factor X; Female; Humans; Infant, Newborn; Male; Multiple Carboxylase Deficiency; Pregnancy; Prothrombin; Vitamin K	2004
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung medical journal, 2004, Volume: 27, Issue:2 Topics: Biotin; Child, Preschool; Diabetic Ketoacidosis; Diagnosis, Differential; Female; Humans; Multiple Carboxylase Deficiency	2004
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. The Journal of biological chemistry, 2004, Dec-10, Volume: 279, Issue:50 Topics: Animals; Base Sequence; Biotin; Brain; Carbon-Nitrogen Ligases; Cell Line; DNA, Complementary; Holocarboxylase Synthetase Deficiency; Humans; Liver; Male; Multiple Carboxylase Deficiency; Rats; Rats, Wistar; RNA, Messenger; Tissue Distribution	2004
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
Biotin. Alternative medicine review : a journal of clinical therapeutic, 2007, Volume: 12, Issue:1 Topics: Animals; Biotin; Candidiasis, Vulvovaginal; Dermatitis; Diabetes Mellitus; Dyslipidemias; Female; Food-Drug Interactions; Foot Diseases; Hoof and Claw; Humans; Male; Multiple Carboxylase Deficiency; Nail Diseases	2007
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant. Neuropediatrics, 1993, Volume: 24, Issue:2 Topics: Administration, Oral; Adolescent; Amidohydrolases; Biotin; Biotinidase; Blood Chemical Analysis; Cognition; Colorimetry; Evoked Potentials, Visual; Follow-Up Studies; Humans; Male; Multiple Carboxylase Deficiency; Muscle Spasticity; Optic Atrophy; Paralysis; Vision Disorders; Visual Acuity	1993
Structure of the biotinyl domain of acetyl-coenzyme A carboxylase determined by MAD phasing. Structure (London, England : 1993), 1995, Dec-15, Volume: 3, Issue:12 Topics: Acetyl-CoA Carboxylase; Amino Acid Oxidoreductases; Amino Acid Sequence; Bacterial Proteins; Binding Sites; Biotin; Crystallography, X-Ray; Escherichia coli; Evolution, Molecular; Geobacillus stearothermophilus; Glycine Dehydrogenase (Decarboxylating); Humans; Hydrogen Bonding; Lysine; Models, Molecular; Molecular Sequence Data; Multiple Carboxylase Deficiency; Peptide Fragments; Plant Proteins; Protein Binding; Protein Structure, Secondary; Protein Structure, Tertiary; Pyruvate Dehydrogenase Complex; Recombinant Fusion Proteins; Recombinant Proteins; Sequence Alignment; Sequence Homology, Amino Acid; Species Specificity; Structure-Activity Relationship	1995
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Human molecular genetics, 1996, Volume: 5, Issue:7 Topics: Amino Acid Sequence; Binding Sites; Biotin; Carbon-Nitrogen Ligases; Cell Line; Fibroblasts; Humans; Infant, Newborn; Ligases; Molecular Sequence Data; Multiple Carboxylase Deficiency; Point Mutation; Polymerase Chain Reaction	1996
Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency. Developmental medicine and child neurology, 1997, Volume: 39, Issue:4 Topics: Biotin; Brain Neoplasms; Carbon-Nitrogen Ligases; Cerebral Ventricles; Cysts; Female; Glioma, Subependymal; Humans; Infant, Newborn; Ligases; Magnetic Resonance Imaging; Multiple Carboxylase Deficiency; Remission Induction	1997
[Biotinidase deficiency]. Anales de la Real Academia Nacional de Medicina, 1997, Volume: 114, Issue:4 Topics: Acyltransferases; Adult; Amidohydrolases; Biotin; Biotinidase; Child; Diagnosis, Differential; Female; Humans; Leigh Disease; Male; Multiple Carboxylase Deficiency	1997
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:8 Topics: Biotin; Fatal Outcome; Female; Humans; Infant; Japan; Male; Multiple Carboxylase Deficiency; Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length	1998
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. Molecular genetics and metabolism, 1999, Volume: 66, Issue:2 Topics: Bacterial Proteins; Biotin; Biotinylation; Carbon-Nitrogen Ligases; Carboxy-Lyases; Cloning, Molecular; Escherichia coli; Escherichia coli Proteins; Humans; Kinetics; Models, Molecular; Multiple Carboxylase Deficiency; Mutagenesis, Site-Directed; Point Mutation; Protein Structure, Secondary; Recombinant Proteins; Repressor Proteins; Restriction Mapping; Transcription Factors	1999
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenatal diagnosis, 1999, Volume: 19, Issue:2 Topics: Adult; Amniocentesis; Biotin; Carbon-Nitrogen Ligases; Female; Fetal Diseases; Humans; Infant; Male; Multiple Carboxylase Deficiency; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis	1999
Biotinidase deficiency: result of treatment with biotin from age 12 years. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 1997, Volume: 1, Issue:5-6 Topics: Amidohydrolases; Biotin; Biotinidase; Brain; Child; Humans; Magnetic Resonance Imaging; Male; Multiple Carboxylase Deficiency; Neuromuscular Diseases; Spinal Cord; Treatment Outcome	1997
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. European journal of pediatrics, 2002, Volume: 161, Issue:3 Topics: Amidohydrolases; Austria; Biotin; Biotinidase; Genotype; Humans; Infant, Newborn; Mass Screening; Multiple Carboxylase Deficiency	2002
Neonatal form of biotin-responsive multiple carboxylase deficiency. Journal of nutritional science and vitaminology, 1992, Volume: Spec No Topics: Animals; Biotin; Carbon-Nitrogen Ligases; Cattle; Cells, Cultured; Humans; Infant, Newborn; Ligases; Liver; Multiple Carboxylase Deficiency; Reference Values	1992
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
[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H]. Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1989, Volume: 137, Issue:11 Topics: Acid-Base Equilibrium; Administration, Oral; Amidohydrolases; Biotin; Biotinidase; Follow-Up Studies; Humans; Infant; Lactates; Lactic Acid; Male; Multiple Carboxylase Deficiency; Pyruvates; Pyruvic Acid	1989
[Significance of biotin analysis in clinical tests]. Nihon rinsho. Japanese journal of clinical medicine, 1989, Volume: 48 Suppl Topics: Biological Assay; Biotin; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Multiple Carboxylase Deficiency	1989
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Amidohydrolases; Biotin; Biotinidase; Carbon-Nitrogen Ligases; Child; Fibroblasts; Glycine; Humans; Kinetics; Ligases; Male; Multiple Carboxylase Deficiency; Valerates	1988
Neonatal screening for biotinidase deficiency in north eastern Italy. European journal of pediatrics, 1988, Volume: 147, Issue:3 Topics: Amidohydrolases; Biotin; Biotinidase; Dermatitis; Female; Humans; Infant, Newborn; Italy; Mass Screening; Multiple Carboxylase Deficiency; Seizures	1988
What is it? Case 2, 1986. Movement disorders : official journal of the Movement Disorder Society, 1986, Volume: 1, Issue:4 Topics: Adult; Biotin; Cerebellar Ataxia; Deafness; Epilepsy; Female; Humans; Multiple Carboxylase Deficiency; Myoclonic Cerebellar Dyssynergia; Videotape Recording	1986
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. Ophthalmic paediatrics and genetics, 1987, Volume: 8, Issue:2 Topics: Alopecia; Amidohydrolases; Biotin; Biotinidase; Child, Preschool; Genes, Recessive; Humans; Keratoconjunctivitis; Male; Multiple Carboxylase Deficiency; Optic Atrophy	1987
Effect of biotin deficiency and supplementation on lipid metabolism in rats: saturated fatty acids. The American journal of clinical nutrition, 1986, Volume: 44, Issue:4 Topics: Animals; Biotin; Brain; Fatty Acids; Lipid Metabolism; Lipids; Liver; Male; Multiple Carboxylase Deficiency; Rats; Rats, Inbred Strains	1986
Multiple carboxylase deficiency due to deficiency of biotinidase. Journal of neurogenetics, 1986, Volume: 3, Issue:6 Topics: Amidohydrolases; Biotin; Biotinidase; Child; Female; Humans; Male; Multiple Carboxylase Deficiency	1986