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Paper Details

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Mol Genet Metab
62
2016
Cardiomyopathy, Inborn Errors of Metabolism, VLCAD, VLCAD deficiency, Very long chain acyl-CoA dehydrogenase, Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, acyl-CoA, acylcarnitine, creatine, creatine kinase, fibroblast, inborn errors of metabolism, white blood cell
Author NameAffiliation
Loren D M PenaDuke University
Susan A BerryUniversity of Minnesota
Jerry VockleyUniversity of Pittsburgh School of Medicine
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