A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
about
Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoterNeurosteroidogenesis Today: Novel Targets for Neuroactive Steroid Synthesis and Action and Their Relevance for Translational Research.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.Mitochondrial epilepsy in pediatric and adult patients.Enzymes involved in branched-chain amino acid metabolism in humans.Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.Movement disorders in mitochondrial disease.Inborn errors of ketone body utilization.
P2860
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P2860
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
description
2011 nî lūn-bûn
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2011 թուականին հրատարակուած գիտական յօդուած
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2011 թվականին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
A novel mutation in the HSD17B ...... etosis and learning disability
@ast
A novel mutation in the HSD17B ...... etosis and learning disability
@en
A novel mutation in the HSD17B ...... etosis and learning disability
@en-gb
A novel mutation in the HSD17B ...... etosis and learning disability
@nl
type
label
A novel mutation in the HSD17B ...... etosis and learning disability
@ast
A novel mutation in the HSD17B ...... etosis and learning disability
@en
A novel mutation in the HSD17B ...... etosis and learning disability
@en-gb
A novel mutation in the HSD17B ...... etosis and learning disability
@nl
altLabel
A Novel Mutation in the HSD17B ...... etosis and Learning Disability
@en
prefLabel
A novel mutation in the HSD17B ...... etosis and learning disability
@ast
A novel mutation in the HSD17B ...... etosis and learning disability
@en
A novel mutation in the HSD17B ...... etosis and learning disability
@en-gb
A novel mutation in the HSD17B ...... etosis and learning disability
@nl
P2093
P2860
P1433
P1476
A novel mutation in the HSD17B ...... etosis and learning disability
@en
P2093
Gregory M Enns
Laurie H Seaver
Lawrence Sweetman
Mazhar Malik
Sansan Lee
Song-Yu Yang
Tina Cowan
Xue-Ying He
P2860
P304
P356
10.1371/JOURNAL.PONE.0027348
P407
P577
2011-01-01T00:00:00Z