The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
about
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionHydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.Inborn errors of ketone body utilization.
P2860
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
The first case in Asia of 2-me ...... e) with atypical presentation.
@en
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
@nl
type
label
The first case in Asia of 2-me ...... e) with atypical presentation.
@en
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
@nl
prefLabel
The first case in Asia of 2-me ...... e) with atypical presentation.
@en
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
@nl
P2093
P2860
P356
P1476
The first case in Asia of 2-me ...... e) with atypical presentation.
@en
P2093
Akira Ohtake
Kazuhisa Akiba
Kei Murayama
Masahiro Goto
Mikiko Morita
Nobuki Kuwayama
Nobuteru Usuda
Rajaram Venkatesan
Rik Wierenga
Takashi Hashimoto
P2860
P2888
P304
P356
10.1038/JHG.2014.79
P577
2014-09-18T00:00:00Z