(Q44603125)

4 December 2017

title

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation (English)

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4 December 2017

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Toshiyuki Fukao

1

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4 December 2017

Kazuhisa Akiba

2

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4 December 2017

Masahiro Goto

3

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4 December 2017

Nobuki Kuwayama

4

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4 December 2017

Mikiko Morita

5

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4 December 2017

Tomohiro Hori

6

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4 December 2017

Yuka Aoyama

7

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4 December 2017

Rajaram Venkatesan

8

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4 December 2017

Rik Wierenga

9

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4 December 2017

Yohsuke Moriyama

10

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4 December 2017

Takashi Hashimoto

11

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4 December 2017

Nobuteru Usuda

12

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4 December 2017

Kei Murayama

13

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4 December 2017

Akira Ohtake

14

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4 December 2017

Yuki Hasegawa

15

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4 December 2017

Yosuke Shigematsu

16

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4 December 2017

Yukihiro Hasegawa

17

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4 December 2017

publication date

18 September 2014

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Journal of Human Genetics

4 December 2017

published in

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4 December 2017

volume

59

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4 December 2017

issue

11

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4 December 2017

page(s)

609-614

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Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

4 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Assessment of normal-appearing white and gray matter in patients with primary progressive multiple sclerosis: a diffusion-tensor magnetic resonance imaging study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Hydroxysteroid (17β) dehydrogenase X in human health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Structure of Bacterial 3β/17β-Hydroxysteroid Dehydrogenase at 1.2 Å Resolution: A Model for Multiple Steroid Recognition†,‡

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.79

Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

1 reference

12 December 2020

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

1 reference

12 December 2020

Structure of bacterial 3beta/17beta-hydroxysteroid dehydrogenase at 1.2 A resolution: a model for multiple steroid recognition

1 reference

12 December 2020

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1038/JHG.2014.79

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4 December 2017

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