(Q44826644)

English

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

scientific article published in April 2004

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 December 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

0 references

spastic diplegia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Ronald J A Wanders

2

object named as

Ronald J A Wanders

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

5

object named as

Charles B L M Majoie

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

7

object named as

Marinus Duran

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

author name string

Bwee Tien Poll-The

1

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Jos P N Ruiter

3

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Rob Ofman

4

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Peter G Barth

6

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

publication date

1 April 2004

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Europe PubMed Central

PubMed publication ID

6 December 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

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6 December 2017

81

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Europe PubMed Central

PubMed publication ID

6 December 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

295-299

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

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/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.013

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.YMGME.2003.11.013

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

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