(Q44519981)

3 December 2017

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene (English)

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3 December 2017

6

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3 December 2017

J Seidel

1

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3 December 2017

S Streck

2

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3 December 2017

K Bellstedt

3

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3 December 2017

C Vianey-Saban

4

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3 December 2017

C B Pedersen

5

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3 December 2017

H Korall

7

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3 December 2017

M Roskos

8

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3 December 2017

T Deufel

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3 December 2017

K F Trefz

10

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3 December 2017

A C Sewell

11

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3 December 2017

E Kauf

12

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3 December 2017

F Zintl

13

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3 December 2017

W Lehnert

14

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3 December 2017

N Gregersen

15

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3 December 2017

1 January 2003

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Journal of Inherited Metabolic Disease

3 December 2017

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3 December 2017

26

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3 December 2017

37-42

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3 December 2017

1

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https://scigraph.springernature.com/pub.10.1023/a:1024019311933

3 December 2017

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cites work

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

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12 December 2020

Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts

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12 December 2020

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

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12 December 2020

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

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12 December 2020

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

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12 December 2020

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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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

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12 December 2020

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy

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12 December 2020

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

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12 December 2020

Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation

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12 December 2020

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

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12 December 2020

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

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12 December 2020

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

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12 December 2020

Identifiers

DOI

10.1023/A:1024019311933

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Dimensions Publication ID

3 December 2017

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