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Article

Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2024

Lin Hsiang-Yu, Lee Chung-Lin, Chang Ya-Hui, Tu Yuan-Rong, Lo Yun-Ting, Wu Jun-Yi, Niu Dau-Ming, Liu Mei-Ying, Liu Hsin-Yun, Chen Hsiao-Jan, Kao Shu-Min, Wang Li-Yun, Ho Huey-Jane, Chuang Chih-Kuang, Lin Shuan-Pei

Abstract excerpt

PURPOSE: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase. METHODS: From September 2019 to October 2023, a total of 264,843 Taiwanese newborns underwent screening for MPS IVA using dried blood spots and tandem mass spectrometry. RESULTS: Among the 95 referred infants, 9 (9%) were confirmed to have MPS IVA (group 1), 18 (19%)...

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PMID: 39375993
DOI: 10.1016/j.gim.2024.101286

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GALNS

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