Article
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China.
Clinica chimica acta; international journal of clinical chemistry - 15 Apr 2024
Sun Yun, Guan Xian-Wei, Wang Yan-Yun, Hong Dong-Yang, Zhang Zhi-Lei, Li Ya-Hong, Yang Pei-Ying, Wang Xin, Jiang Tao, Chi Xia
Abstract excerpt
Fabry disease (FD), an X-linked disorder resulting from dysfunction of α-galactosidase A, can result in significant complications. Early intervention yields better outcomes, but misdiagnosis or delayed diagnosis is common, impacting prognosis. Thus, early detection is crucial in the clinical diagnosis and treatment of FD. While newborn screening for FD has been implemented in certain regions, challenges persist...
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