Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency
about
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiencyBiotin and biotinidase deficiencyBiotinMutations in BTD causing biotinidase deficiencyNewborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizationsProfound biotinidase deficiency in two asymptomatic adultsDevelopment and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorderThe Biotinidase Gene Variants Registry: A Paradigm Public DatabaseStructure of the human biotinidase gene.Differential profiling of breast cancer plasma proteome by isotope-coded affinity tagging method reveals biotinidase as a breast cancer biomarker.Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.Palmoplantar keratoderma of Unna-Thost: response to biotin in one family.Experience of the Manitoba Perinatal Screening Program, 1965-85Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.Biotin dependency due to a defect in biotin transport.Drosophila melanogaster holocarboxylase synthetase is a chromosomal protein required for normal histone biotinylation, gene transcription patterns, lifespan, and heat tolerance.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 probeThe molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.Biotinidase deficiency: a survey of 10 casesBiotinidase deficiency mimicking primary immune deficiencies.A biotinidase Km variant causing late onset bilateral optic neuropathy.Susceptibility to heat stress and aberrant gene expression patterns in holocarboxylase synthetase-deficient Drosophila melanogaster are caused by decreased biotinylation of histones, not of carboxylases.Dermatologic signs of biotin deficiency leading to the diagnosis of multiple carboxylase deficiency.Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.A replaceable liposomal aptamer for the ultrasensitive and rapid detection of biotinOrganic acidurias: a review. Part 1.Clinical utility gene card for: Biotinidase deficiency-update 2015.Organic acidurias: a review. Part 2.Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degenerationComparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".Nutritional therapy for selected inborn errors of metabolism.Developmental window of sensorineural deafness in biotinidase-deficient mice.Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase.Organic acidurias and related abnormalities.Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.Epilepsy in biotinidase deficiency after biotin treatment.
P2860
Q24308088-14AFFE3E-7217-48F6-879B-AEA634FA54E6Q24651550-ACEEBC70-17A2-4C62-ABD4-3AADD4AF8FC2Q28026625-28A327F2-A2A1-436E-AA5A-0922D4096BE8Q28201613-56E47E21-7E00-4629-962D-3DBD668FE89AQ28254360-0B89DE54-727D-4E0A-908C-DDA2EA6207ADQ28255131-58520A08-428B-4DD2-8840-C81AA5223549Q28593216-5DED3329-DA2A-4917-A420-0D731FF5348BQ30428953-EB7BDA9F-17E6-438E-BA8F-DA4BD829FACFQ32073748-5AEAECFA-C99A-4773-9051-4BFBA67DB764Q33546659-7D59B3EE-932A-4C4E-B3E7-0C3C2D9B89E8Q33674942-8BD5B292-1CE1-42CD-BC0C-97E241B6C518Q33973565-DCFBB905-FDBD-4153-A01E-6D6F80869DD8Q34100571-626BBF4C-A254-4191-8370-99AFC0451048Q34538208-137388FF-CF55-4467-8B89-34876A70E6BDQ34792348-F433C51A-0705-448C-ADE0-A495BBB9E6F0Q35113882-A1CAF5CE-9DC1-4792-B8E8-254C6011A582Q35198796-834B9C14-7CF2-4752-A6BF-4A8B1AE2DE6CQ35199791-3789736F-3083-43F4-AEC4-F703C1429C99Q35200249-A196B3D5-BB3A-4958-83B1-51E36AFCF8A4Q35604837-21A1CB3B-CC1B-45C7-831B-522813B2775FQ35614886-AF1DB753-4091-401C-9291-645D24C8F49BQ35627719-53F6ED0B-12A2-43EB-BDBF-9A52DA4B5C6AQ35698874-5D19A283-5F1F-4AF0-850D-903DC8656CA3Q35785259-F0A33911-87A4-4B07-BF5E-2C31E18C5E6DQ36476392-0E8614FC-FEBA-416D-AC9E-F171885BBD99Q36606003-CC51F164-09C8-494F-983A-A5EC9AE6E4F9Q37254022-B901453E-6AE2-430B-B81E-93E5D1843BBBQ37351466-4B95E543-1506-4D83-B188-714128B3EA10Q37463522-69CE7B4A-82E2-4574-9AB5-919B3B2A5F0BQ37675615-2E94E38D-FAA8-4B34-9D8B-ADD26C23D4F5Q37694905-1E705ABF-F5A5-42CD-A477-5A0838932C3BQ37975415-B08D6E45-C83B-4D2C-8223-12852F7C7E32Q38712479-9F3490B3-F2FA-41F1-8020-8AB40F3F646FQ38779537-5ACF0219-1EF3-4B5A-B492-5223973D9394Q39665688-2B4C0506-8989-461A-A682-255C186D6999Q39925647-AFE6AD2B-D0BB-43DC-8EE5-A9C3A42FF8A7Q40091819-667AD3B6-6ACC-4E93-ADBB-35C77665A136Q40422979-285E28EC-F6DE-42EC-B589-CCB9F5B29AABQ41138604-225F5EA4-FA0D-4F90-B4DE-8D2A916D47D4Q41833058-3933B177-7AA3-4AE7-B139-8D9D696864BC
P2860
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency
description
1983 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1983
@ast
im Juli 1983 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1983/07/15)
@sk
vědecký článek publikovaný v roce 1983
@cs
wetenschappelijk artikel (gepubliceerd op 1983/07/15)
@nl
наукова стаття, опублікована в липні 1983
@uk
مقالة علمية (نشرت في 15-7-1983)
@ar
name
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@ast
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@en
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@nl
type
label
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@ast
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@en
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@nl
prefLabel
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@ast
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@en
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@nl
P2093
P1433
P1476
Biotinidase deficiency: the en ...... ultiple carboxylase deficiency
@en
P2093
C. L. Kien
R. E. Grier
R. J. Allen
S. I. Goodman
P304
P356
10.1016/0009-8981(83)90096-7
P577
1983-07-15T00:00:00Z