Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
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Mutations in BTD causing biotinidase deficiencyNovel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardationAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defectClinical 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".Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.Neonatal screening for biotinidase deficiency: A 30-year single center experience.Technical standards and guidelines for the diagnosis of biotinidase deficiency.High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
P2860
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P2860
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Double mutation (A171T and D44 ...... ions in brief no. 128. Online.
@en
Double mutation
@nl
type
label
Double mutation (A171T and D44 ...... ions in brief no. 128. Online.
@en
Double mutation
@nl
prefLabel
Double mutation (A171T and D44 ...... ions in brief no. 128. Online.
@en
Double mutation
@nl
P2093
P1433
P1476
Double mutation (A171T and D44 ...... ions in brief no. 128. Online.
@en
P2093
K J Norrgard
K L Swango
R J Pomponio
T Reynolds
P356
10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8
P577
1998-01-01T00:00:00Z