(Q57083717)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266373%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

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

1 reference

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5 November 2019

1 reference

3

1 reference

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5 November 2019

author name string

K E Baerlocher

1

1 reference

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5 November 2019

B Steinmann

2

1 reference

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5 November 2019

S Krähenbühl

4

1 reference

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5 November 2019

C R Roe

5

1 reference

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5 November 2019

C Vianey-Saban

6

1 reference

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5 November 2019

publication date

1 July 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266373%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

5 November 2019

published in

1 reference

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5 November 2019

volume

20

1 reference

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5 November 2019

page(s)

427-431

1 reference

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5 November 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1023/a:1005319120751

5 November 2019

exact match

0 references

cites work

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

1 reference

12 December 2020

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

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

Evidence for intermediate channeling in mitochondrial beta-oxidation

1 reference

12 December 2020

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

1 reference

12 December 2020

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

1 reference

12 December 2020

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

1 reference

12 December 2020

The inborn errors of mitochondrial fatty acid oxidation

1 reference

12 December 2020

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

1 reference

12 December 2020