The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.

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http://www.wikidata.org/entity/Q38244968
Pyruvate dehydrogenase deficiencyAn amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor proteinPyruvate dehydrogenase E1 alpha deficiency: males and females differ yet againHuman Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachX chromosome inactivation and the diagnosis of X linked disease in femalesAn animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1αDemethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha geneMutations 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.Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
P2860

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.

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http://www.wikidata.org/entity/Q38244968
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.
@en
type
label
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.
@en
prefLabel
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P478
P577
P698
P356
P1433
P1476
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1749-6632.1989.TB15011.X
P407
P478
P577
P698