(Q42280186)

19 October 2017

title

Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency (English)

1 reference

short-chain acyl-coenzyme A dehydrogenase deficiency

19 October 2017

main subject

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butyrylglycine

1 reference

ChEBI release 2020-05-28

Dawson DB

1

1 reference

19 October 2017

Waber L

series ordinal

2

1 reference

19 October 2017

Hale DE

series ordinal

3

1 reference

19 October 2017

Bennett MJ

series ordinal

4

1 reference

19 October 2017

language of work or name

English

0 references

publication date

1 January 1995

1 reference

The Journal of Pediatrics

19 October 2017

published in

1 reference

19 October 2017

volume

126

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19 October 2017

issue

1

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19 October 2017

page(s)

69-71

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Fatty acid oxidation disorders: A new class of metabolic diseases

19 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

The laboratory diagnosis of inborn errors of mitochondrial fatty acid oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

Purification and Properties of Rat Liver Acyl-CoA Dehydrogenases and Electron Transfer Flavoprotein1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970505-8

10.1016/S0022-3476(95)70505-8

7 January 2021

Identifiers

DOI

1 reference

19 October 2017

1 reference