(Q44060115)

29 November 2017

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency (English)

1 reference

2-methylbutyryl-CoA dehydrogenase deficiency

29 November 2017

0 references

4

Ronald J A Wanders

1 reference

29 November 2017

Regina Ensenauer

1

1 reference

29 November 2017

Helmut Niederhoff

2

1 reference

29 November 2017

Jos P N Ruiter

3

1 reference

29 November 2017

K Otfried Schwab

5

1 reference

29 November 2017

Matthias Brandis

6

1 reference

29 November 2017

Willy Lehnert

7

1 reference

29 November 2017

1 May 2002

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29 November 2017

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29 November 2017

51

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29 November 2017

656-659

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29 November 2017

5

1 reference

Urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2‐methylacetoacetyl‐CoA thiolase deficiency

29 November 2017

1 reference

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

21 January 2018

1 reference

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

3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms

21 January 2018

1 reference

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

21 January 2018

1 reference

Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: purification and characterization of a novel enzyme of isoleucine metabolism

21 January 2018

1 reference

3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10169

1 reference

29 November 2017

1 reference