Inborn errors of ketone body utilization.

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description

2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Inborn errors of ketone body utilization.

@en

Inborn errors of ketone body utilization.

@nl

type

Item

label

Inborn errors of ketone body utilization.

@en

Inborn errors of ketone body utilization.

@nl

prefLabel

Inborn errors of ketone body utilization.

@en

Inborn errors of ketone body utilization.

@nl

P1476

Inborn errors of ketone body utilization.

@en

P2093

Haruo Shinkaku

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Masaki Takayanagi

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Reiko Horikawa

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Seiji Yamaguchi

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Tomohiro Hori

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Toshiyuki Fukao

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Yosuke Shigematsu

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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

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

P304

41-48

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P31

scholarly article

P356

10.1111/PED.12585

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P433

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P478

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P577

2015-02-01T00:00:00Z

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P698

25559898

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