Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
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Pyruvate dehydrogenase deficiencyPyruvate dehydrogenase E1 alpha deficiency: males and females differ yet againMutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.Three new mutations in patients with myophosphorylase deficiency (McArdle disease)The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patientsA zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
P2860
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P2860
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
name
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@ast
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@en
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@nl
type
label
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@ast
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@en
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@nl
prefLabel
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@ast
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@en
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@nl
P2093
P356
P1476
Characterization of the mutati ...... drogenase E1 alpha deficiency.
@en
P2093
P2860
P2888
P304
P356
10.1007/BF01800586
P577
1991-01-01T00:00:00Z
P6179
1030377911