(Q46691234)

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

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Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16148061

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

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16148061

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Ronald J A Wanders

10

object named as

Ronald J A Wanders

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24 December 2017

http://europepmc.org/abstract/MED/16148061

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Celia Perez-Cerda

1

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Judit García-Villoria

2

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Rob Ofman

3

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Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16148061

Pedro Ruiz Sala

4

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Begoña Merinero

5

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Julio Ramos

6

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Maria Teresa García-Silva

7

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Beatriz Beseler

8

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Jaime Dalmau

9

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Magdalena Ugarte

11

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Antonia Ribes

12

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http://europepmc.org/abstract/MED/16148061

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1 September 2005

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24 December 2017

http://europepmc.org/abstract/MED/16148061

Pediatric Research

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24 December 2017

http://europepmc.org/abstract/MED/16148061

58

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http://europepmc.org/abstract/MED/16148061

488-491

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24 December 2017

http://europepmc.org/abstract/MED/16148061

3

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24 December 2017

http://europepmc.org/abstract/MED/16148061

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000176916.94328.cd

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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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

scully, an essential gene of Drosophila, is homologous to mammalian mitochondrial type II L-3-hydroxyacyl-CoA dehydrogenase/amyloid-beta peptide-binding protein

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000176916.94328.CD

21 January 2018

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10.1203/01.PDR.0000176916.94328.CD

1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16148061

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1 reference

Europe PubMed Central

24 December 2017

http://europepmc.org/abstract/MED/16148061

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