(Q43511079)

English

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

scientific article published in December 2000

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scholarly article

1 reference

Europe PubMed Central

24 November 2017

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

1 reference

Europe PubMed Central

24 November 2017

0 references

author name string

Zschocke J

1

1 reference

Europe PubMed Central

24 November 2017

Ruiter JP

2

1 reference

Europe PubMed Central

24 November 2017

Brand J

3

1 reference

Europe PubMed Central

24 November 2017

Lindner M

4

1 reference

Europe PubMed Central

24 November 2017

Hoffmann GF

5

1 reference

Europe PubMed Central

24 November 2017

Wanders RJ

6

1 reference

Europe PubMed Central

24 November 2017

Mayatepek E

7

1 reference

Europe PubMed Central

24 November 2017

language of work or name

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publication date

1 December 2000

1 reference

Europe PubMed Central

24 November 2017

Pediatric Research

1 reference

Europe PubMed Central

24 November 2017

48

1 reference

Europe PubMed Central

24 November 2017

852-855

1 reference

Europe PubMed Central

24 November 2017

6

1 reference

Europe PubMed Central

24 November 2017

https://scigraph.springernature.com/pub.10.1203/00006450-200012000-00025

0 references

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200012000-00025

21 January 2018

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200012000-00025

21 January 2018

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

https://api.crossref.org/works/10.1203%2F00006450-200012000-00025

21 January 2018

Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200012000-00025

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-200012000-00025

21 January 2018

Identifiers

10.1203/00006450-200012000-00025

1 reference

Europe PubMed Central

24 November 2017

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release_b6vlsdi73rbkjlcdd5xhgzndz4

1 reference

https://api.fatcat.wiki/v0/release/b6vlsdi73rbkjlcdd5xhgzndz4

24 November 2022

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mapped directly with Wikidata item

1 reference

Europe PubMed Central

24 November 2017

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