Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts.The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patientsSomatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
P2860
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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name
Somatic mosaicism for a PDHA1 ...... vate dehydrogenase deficiency.
@en
Somatic mosaicism for a PDHA1 ...... vate dehydrogenase deficiency.
@nl
type
label
Somatic mosaicism for a PDHA1 ...... vate dehydrogenase deficiency.
@en
Somatic mosaicism for a PDHA1 ...... vate dehydrogenase deficiency.
@nl
prefLabel
Somatic mosaicism for a PDHA1 ...... vate dehydrogenase deficiency.
@en
Somatic mosaicism for a PDHA1 ...... vate dehydrogenase deficiency.
@nl
P2093
P2860
P1433
P1476
Somatic mosaicism for a PDHA1 ...... vate dehydrogenase deficiency.
@en
P2093
Cheryl K Ridout
Garry K Brown
John H Walter
Ruth M Brown
P2860
P2888
P304
P356
10.1007/S00439-008-0538-0
P577
2008-08-17T00:00:00Z