Litcius/Paper detail

Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test

Hui‐An Chen, Rai‐Hseng Hsu, Yuhan Chen, Li‐Wen Hsu, Shu-Chang Chiang, Ni‐Chung Lee, Wuh‐Liang Hwu, Pao‐Chin Chiu, Yin‐Hsiu Chien

2022Molecular Genetics and Metabolism21 citationsDOI

Topics & Concepts

Newborn screeningTest (biology)PediatricsMedicineBiologyPaleontologyMetabolism and Genetic DisordersGenomics and Rare DiseasesBlood disorders and treatments