Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference14 articles.
1. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States;Miller;Mol Genet Metab,2015
2. Recognition and management of fatty acid oxidation defects: a series of 107 patients;Saudubray;J Inherit Metab Dis,1999
3. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database;Pena;Mol Genet Metab,2016
4. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life;Boles;J Pediatr,1998
5. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis;Boneh;Mol Genet Metab,2006
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