(Q46297121)

21 December 2017

title

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening (English)

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21 December 2017

short-chain acyl-coenzyme A dehydrogenase deficiency

main subject

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Can Ficicioglu

2

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author name string

Reena Jethva

series ordinal

1

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21 December 2017

publication date

23 October 2008

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21 December 2017

Molecular Genetics and Metabolism

published in

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21 December 2017

volume

95

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21 December 2017

issue

4

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21 December 2017

page(s)

241-242

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21 December 2017

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.003

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.003

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.09.003

10.1016/J.YMGME.2008.09.003

7 January 2021

Identifiers

DOI

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21 December 2017

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21 December 2017