Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
about
The nitrilase superfamily: classification, structure and functionAnalysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemiaMutations in BTD causing biotinidase deficiencyNewborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizationsNovel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardationThe Biotinidase Gene Variants Registry: A Paradigm Public DatabaseThe impact of molecular genetics on oral health paradigms.Biotin dependency due to a defect in biotin transport.High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.Clinical utility gene card for: Biotinidase deficiency-update 2015.Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".Profound biotinidase deficiency in a child with predominantly spinal cord disease.First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.Epilepsy in biotinidase deficiency after biotin treatment.First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.Clinical utility gene card for: biotinidase deficiency.Technical standards and guidelines for the diagnosis of biotinidase deficiency.Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
P2860
Q24551006-5FC2339F-3527-4022-BFC8-CD3CDF896AF0Q24680462-BFB5DBC6-8A52-4681-A509-BCB24AB78EFDQ28201613-4B404392-BAD1-4AF3-AADA-DF0A0840A382Q28254360-ED1EDD39-8EB6-43B9-9B36-4432A63D3BF0Q28273124-8E490F7E-37FF-4E9C-BBAD-43FC702B3A92Q30428953-21FF9D68-51D1-48E0-A983-97BF817295A3Q33842939-C87D1E66-86B4-432E-90B8-46FB2BA92B40Q34792348-2C7E26FE-427F-4CDF-B163-897C335E1CC8Q36090535-0B5EA061-AF91-4A5C-B965-519C4259D559Q37351466-19815540-039C-4F4F-B2BB-186A41B43EE4Q37975415-F5BCAC1A-8D66-4AB2-8181-5F39DFB5A9EEQ38940890-66E96FBB-E699-4A5E-8FCF-E06F236802ABQ38961624-7618C0C8-B0EA-444F-9DB0-CFCA067237CDQ39665688-97C5D596-D1FD-4B6E-AE9F-1A0ED4159D75Q41833058-0F8275F6-C15D-412A-B823-20F66399C3E8Q42202459-944370FE-ABBA-47DE-9E16-32FA17DFBA8CQ42538874-D1B8969E-8413-488D-99FC-4A6335E1555BQ43030614-7723356B-E8A2-4DB8-A0E8-45AAE16FEB20Q43281516-19990A25-033C-4E1B-958C-59DFD4431D47Q44862217-42A24416-DA27-49EC-8040-4D73D907B39BQ47680401-37C5AAC9-31A7-447E-A7A4-EBC4FBA4517AQ48289340-EE6FB206-34F9-443B-874F-F7AFBAF2774A
P2860
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Mutations in the human biotini ...... emical, and clinical analysis.
@en
Mutations in the human biotini ...... emical, and clinical analysis.
@nl
type
label
Mutations in the human biotini ...... emical, and clinical analysis.
@en
Mutations in the human biotini ...... emical, and clinical analysis.
@nl
prefLabel
Mutations in the human biotini ...... emical, and clinical analysis.
@en
Mutations in the human biotini ...... emical, and clinical analysis.
@nl
P2093
P2860
P1433
P1476
Mutations in the human biotini ...... emical, and clinical analysis.
@en
P2093
Fleischhauer K
Pomponio RJ
Reynolds TR
P2860
P304
P356
10.1203/00006450-199712000-00020
P407
P577
1997-12-01T00:00:00Z
P6179
1064211434