Asymptomatic ASS1 carriers with high blood citrulline levels
Journal
Molecular genetics & genomic medicine
Journal Volume
10
Journal Issue
9
Date Issued
2022-09
Author(s)
Chang, Kai-Ling
Huang, Yi-Chen
Chiang, Yun-Chen
Chiu, Pao-Chin
Abstract
Citrullinemia Type 1 (CTLN1) is an autosomal recessive disorder caused by variants in the ASS1 gene. This study intends to clarify the etiology of false positives in newborn screening for citrullinemia.
Subjects
ASS1; carriers; citrullinemia; newborn screening; tandem mass analysis
SDGs
Publisher
WILEY
Type
journal article