Asymptomatic ASS1 carriers with high blood citrulline levels

Asymptomatic ASS1 carriers with high blood citrulline levels

Abstract Introduction 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. Method Newborns who had elevated dried‐blood spot citrulline levels were en...

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Bibliographic Details
Main Authors: Hui‐An Chen, Rai‐Hseng Hsu, Kai‐Ling Chang, Yi‐Chen Huang, Yun‐Chen Chiang, Ni‐Chung Lee, Wuh‐Liang Hwu, Pao‐Chin Chiu, Yin‐Hsiu Chien
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ASS1
carriers
citrullinemia
newborn screening
tandem mass analysis
Online Access:https://doi.org/10.1002/mgg3.2007

Internet

https://doi.org/10.1002/mgg3.2007

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