3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?

Abstract

In this issue of the Journal a paper from Israel describes the biochemical, molecular, and clinical data of all the patients with 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) diagnosed as a result of 50 months of extended newborn screening—16 newborns, 20 affected mothers, and four other family members. Based on this report of mainly asymptomatic… (More)
DOI: 10.1007/s10545-015-9906-9

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