A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria (Q72693235)

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28 October 2019

title

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

1 reference

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28 October 2019

author name string

A C Sewell

1

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28 October 2019

J Herwig

2

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28 October 2019

H Böhles

3

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28 October 2019

P Rinaldo

4

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28 October 2019

A Bhala

5

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28 October 2019

D E Hale

6

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28 October 2019

publication date

1 November 1993

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European Journal of Pediatrics

28 October 2019

published in

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28 October 2019

volume

152

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28 October 2019

issue

11

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28 October 2019

page(s)

922-924

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Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

28 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism

1 reference

12 December 2020

New clinical phenotype of branched-chain acyl-CoA oxidation defect

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

4-Hydroxycyclohexanecarboxylic acid: a rare compound in urinary organic acid analysis

1 reference

12 December 2020

The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

1 reference

12 December 2020

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

1 reference

12 December 2020

Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme

1 reference

12 December 2020

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01957531

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28 October 2019

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