Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan

ABSTRACT Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal disorder with diverse clinical presentations and often delayed diagnosis. This study investigates the clinical features, genetic variants, and treatment outcomes in Taiwanese patients. Methods We retrospectively reviewed...

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Autori principali:	Hsu‐Heng Lin, Hui‐An Chen, Shyh‐Jer Lin, Rai‐Hseng Hsu, Ni‐Chung Lee, Wuh‐Liang Hwu, Yen‐Hsuan Ni, Yen‐Yin Chou, Pao‐Chin Chiu, Steven Shinn‐Forng Peng, Yin‐Hsiu Chien
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2026-02-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	ASMD NBS Niemann–pick disease type A/B Olipudase alfa SMPD1
Accesso online:	https://doi.org/10.1002/mgg3.70204
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