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