Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

Item
http://www.wikidata.org/entity/Q30584522
Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency.Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.Lipoic acid biosynthesis defects.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Leigh syndrome: One disorder, more than 75 monogenic causes.Lesions in the Splenium of the Corpus Callosum on MRI in Children: A Review.Maple syrup urine disease: mechanisms and management.Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.Formation of reactive oxygen species by human and bacterial pyruvate and 2-oxoglutarate dehydrogenase multienzyme complexes reconstituted from recombinant components.A hemizygous GYG2 mutation and Leigh syndrome: a possible link?Structural alterations by five disease-causing mutations in the low-pH conformation of human dihydrolipoamide dehydrogenase (hLADH) analyzed by molecular dynamics - Implications in functional loss and modulation of reactive oxygen species generation
P2860

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

Item
http://www.wikidata.org/entity/Q30584522
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
@ast
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
@en
type
label
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
@ast
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
@en
prefLabel
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
@ast
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
@en
P2093
P2860
P304
P31
P356
10.1016/J.PEDIATRNEUROL.2012.09.013
P433
P478
P50
P577
P5875
P698
P932