Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
about
Drug treatment of inborn errors of metabolism: a systematic reviewA guide to diagnosis and treatment of Leigh syndrome.A rare mitochondrial disorder: Leigh syndrome--a case report.Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.Mitochondrial Respiratory Defect Causes Dysfunctional Lactate Turnover via AMP-activated Protein Kinase Activation in Human-induced Pluripotent Stem Cell-derived Hepatocytes.Liver disease in mitochondrial disorders.A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.Peripheral neuropathy associated with mitochondrial disease in children.Thiamine triphosphate: a ubiquitous molecule in search of a physiological role.Defects of thiamine transport and metabolism.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
P2860
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P2860
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Outcome of thiamine treatment ...... vate dehydrogenase deficiency.
@en
Outcome of thiamine treatment ...... vate dehydrogenase deficiency.
@nl
type
label
Outcome of thiamine treatment ...... vate dehydrogenase deficiency.
@en
Outcome of thiamine treatment ...... vate dehydrogenase deficiency.
@nl
prefLabel
Outcome of thiamine treatment ...... vate dehydrogenase deficiency.
@en
Outcome of thiamine treatment ...... vate dehydrogenase deficiency.
@nl
P2093
P356
P1476
Outcome of thiamine treatment ...... vate dehydrogenase deficiency.
@en
P2093
P304
P356
10.1053/EJPN.2000.0278
P577
2000-01-01T00:00:00Z