A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
about
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survivalThiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patientsThe spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Defects of thiamine transport and metabolism.
P2860
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
A cognitively normal PDH-defic ...... 3G mutation in the PDHA1 gene.
@en
A cognitively normal PDH-defic ...... 3G mutation in the PDHA1 gene.
@nl
type
label
A cognitively normal PDH-defic ...... 3G mutation in the PDHA1 gene.
@en
A cognitively normal PDH-defic ...... 3G mutation in the PDHA1 gene.
@nl
prefLabel
A cognitively normal PDH-defic ...... 3G mutation in the PDHA1 gene.
@en
A cognitively normal PDH-defic ...... 3G mutation in the PDHA1 gene.
@nl
P2093
P2860
P1476
A cognitively normal PDH-defic ...... 3G mutation in the PDHA1 gene.
@en
P2093
J Lawrence Merritt
R Bachmann-Gagescu
P2860
P2888
P356
10.1007/S10545-009-1101-4
P478
32 Suppl 1
P577
2009-07-29T00:00:00Z
P6179
1032848502