Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited...

Source: Orphanet Journal of Rare Diseases - December 4, 2021 Category: Internal Medicine Authors: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin and Weifeng Zhang Tags: Research Source Type: research