Article
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Molecular genetics and metabolism - 1 Aug 2016
Pena Loren D M, 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
Abstract excerpt
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis, treatment, and surveillance can reduce mortality; hence, the disorder is included in the newborn Recommended Uniform Screening Panel (RUSP) in the United States. The Inborn...
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