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Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

Yi, MN; Wang, Y; Gao, XL; Han, LS; Qiu, WJ; Gu, XF; Maegawa, GHB; Zhang, HW

Zhang, HW (通讯作者),Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Shanghai Inst Pediat Res,Pediat Endocrinol & Gene, Kongjiang Rd 1665, Shanghai 200092, Peoples R China.

JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (3): 593

Abstract

Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder resulting from the deficiency of N-acetylgalactosamine-6-sulfate sulfa......

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