Profound biotinidase deficiency in two asymptomatic adults
about
Genetic variation in an individual human exomeMutations in BTD causing biotinidase deficiencyNovel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardationDetermining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.Clinical presentation and significance of emerging opportunistic infections.Comparison 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".Technical standards and guidelines for the diagnosis of biotinidase deficiency.Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.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.Defective extracellular BTD does not hydrolyse BCTNDefective mitochondrial BTD does not hydrolyse BCTN
P2860
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P2860
Profound biotinidase deficiency in two asymptomatic adults
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Profound biotinidase deficiency in two asymptomatic adults
@ast
Profound biotinidase deficiency in two asymptomatic adults
@en
Profound biotinidase deficiency in two asymptomatic adults
@nl
type
label
Profound biotinidase deficiency in two asymptomatic adults
@ast
Profound biotinidase deficiency in two asymptomatic adults
@en
Profound biotinidase deficiency in two asymptomatic adults
@nl
prefLabel
Profound biotinidase deficiency in two asymptomatic adults
@ast
Profound biotinidase deficiency in two asymptomatic adults
@en
Profound biotinidase deficiency in two asymptomatic adults
@nl
P2093
P2860
P1476
Profound biotinidase deficiency in two asymptomatic adults
@en
P2093
K Fleischhauer
K Norrgard
M G Blitzer
R J Pomponio
P2860
P356
10.1002/(SICI)1096-8628(19971128)73:1<5::AID-AJMG2>3.0.CO;2-U
P407
P577
1997-11-28T00:00:00Z