(Q53009453)

English

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

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scholarly article

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis. (English)

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

very long chain acyl-CoA dehydrogenase deficiency

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Ronald J A Wanders

3

object named as

Ronald J A Wanders

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

Sacha Ferdinandusse

4

object named as

Sacha Ferdinandusse

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

author name string

Emmanuel Scalais

1

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

Jean Bottu

2

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

Hans R Waterham

5

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

Linda De Meirleir

6

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Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

language of work or name

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publication date

22 October 2014

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Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

American Journal of Medical Genetics

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Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

167A

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Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

1

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

211-214

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Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Propofol infusion syndrome: an overview of a perplexing disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Recent developments in the investigation of inherited metabolic disorders using cultured human cells

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Direct activation of Ca2+ channels by palmitoyl carnitine, a putative endogenous ligand

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Identification of methylenecyclopropyl acetic acid in serum of European horses with atypical myopathy

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Impaired fatty acid oxidation in propofol infusion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36803

21 January 2018

Identifiers

10.1002/AJMG.A.36803

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

1 reference

Europe PubMed Central

10 May 2018

http://europepmc.org/abstract/MED/25338548

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