(Q28118617)

English

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

scientific journal article

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scholarly article

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion (English)

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Enoyl-CoA hydratase, short chain 1

1 reference

GOA release 2020-03-11

fatty acid beta-oxidation

1 reference

GOA release 2020-03-11

Daisuke Fukushi

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Kenichiro Yamada

1

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Kaori Aiba

2

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yasuyuki Kitaura

3

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yusuke Kondo

4

2 references

4 January 2017

Europe PubMed Central

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21 February 2020

Noriko Nomura

5

2 references

4 January 2017

Europe PubMed Central

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21 February 2020

Yuji Nakamura

6

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Kei Murayama

8

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Yoshiharu Shimomura

9

2 references

4 January 2017

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21 February 2020

James Pitt

10

2 references

4 January 2017

Europe PubMed Central

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21 February 2020

Seiji Yamaguchi

11

2 references

4 January 2017

Europe PubMed Central

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21 February 2020

Kenji Yokochi

12

2 references

4 January 2017

Europe PubMed Central

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21 February 2020

Nobuaki Wakamatsu

13

2 references

4 January 2017

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21 February 2020

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publication date

6 August 2015

1 reference

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21 February 2020

Journal of Medical Genetics

2 references

4 January 2017

Europe PubMed Central

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21 February 2020

52

2 references

4 January 2017

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21 February 2020

10

2 references

4 January 2017

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21 February 2020

691-698

1 reference

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21 February 2020

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Purification and properties of rat D-3-hydroxyacyl-CoA dehydratase: D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103231

21 January 2018

Identifiers

10.1136/JMEDGENET-2015-103231

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

2 references

4 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26251176%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

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