(Q44295278)

1 December 2017

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

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1 December 2017

S E Olpin

1

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1 December 2017

R J Pollitt

2

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1 December 2017

J McMenamin

3

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1 December 2017

N J Manning

4

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1 December 2017

G Besley

5

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1 December 2017

J P N Ruiter

6

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1 December 2017

R J A Wanders

7

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1 December 2017

1 October 2002

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Journal of Inherited Metabolic Disease

1 December 2017

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1 December 2017

25

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1 December 2017

477-482

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1 December 2017

6

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https://scigraph.springernature.com/pub.10.1023/a:1021251202287

1 December 2017

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cites work

Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism

1 reference

12 December 2020

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

12 December 2020

The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria

1 reference

12 December 2020

A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency

1 reference

12 December 2020

Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1021251202287

1 reference

Dimensions Publication ID

1 December 2017

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1 reference