First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0391-9
Abstract: To the Editor Population-based screening of newborns can effectively identify infants with genetic defects of the immune system leading to severe combined immunodeficiency (SCID) [1]. Early diagnosis of SCID prompts intervention before life-threatening infections and… read more here.
Keywords: linked moesin; first case; scid; identified newborn ... See more keywords
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1062715
Abstract: Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). Patients with PCD may be at risk of skeletal or… read more here.
Keywords: carnitine deficiency; pcd; genetic characteristics; primary carnitine ... See more keywords