Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.

Item
http://www.wikidata.org/entity/Q46535805
Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.Mitochondrial energetics and therapeutics.High-dose thiamine improves the symptoms of Friedreich's ataxiaBeneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.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.Peripheral neuropathy associated with mitochondrial disease in children.Defects of thiamine transport and metabolism.Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.Genotype–phenotype correlations in mitochondrial optic neuropathies
P2860

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.

Item
http://www.wikidata.org/entity/Q46535805
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Thiamine responsive pyruvate d ...... uropathy and optic neuropathy.
@en
Thiamine responsive pyruvate d ...... uropathy and optic neuropathy.
@nl
type
label
Thiamine responsive pyruvate d ...... uropathy and optic neuropathy.
@en
Thiamine responsive pyruvate d ...... uropathy and optic neuropathy.
@nl
prefLabel
Thiamine responsive pyruvate d ...... uropathy and optic neuropathy.
@en
Thiamine responsive pyruvate d ...... uropathy and optic neuropathy.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P356
P1433
P1476
Thiamine responsive pyruvate d ...... uropathy and optic neuropathy.
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698