Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database-Reference-Cited by-同舟云学术

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Published:2016-08 Issue:4 Volume:118 Page:272-281
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Pena Loren D.M.^ORCID,van Calcar Sandra C.,Hansen Joyanna,Edick Mathew J.,Walsh Vockley Cate,Leslie Nancy,Cameron Cynthia,Mohsen Al-Walid,Berry Susan A.,Arnold Georgianne L.,Vockley Jerry

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference32 articles.

1. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood;Strauss;Proc. Natl. Acad. Sci. U. S. A.,1995

2. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase;Aoyama;Biochem. Biophys. Res. Commun.,1993

3. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency;Arnold;Mol. Genet. Metab.,2009

4. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop;Spiekerkoetter;J. Inherit. Metab. Dis.,2009

5. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency;Coughlin;J. Inherit. Metab. Dis.,2010

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