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

Molecular genetics & genomic medicine - 1 Feb 2026

Lin Hsu-Heng, Chen Hui-An, Lin Shyh-Jer, Hsu Rai-Hseng, Lee Ni-Chung, Hwu Wuh-Liang, Ni Yen-Hsuan, Chou Yen-Yin, Chiu Pao-Chin, Peng Steven Shinn-Forng, Chien Yin-Hsiu

Abstract excerpt

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 nine ASMD cases in Taiwan, including genetic data and responses to olipudase alfa. Newborn screening data using the NeoLSD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41692468
DOI: 10.1002/mgg3.70204
PMCID: PMC12906976

Genes

SMPD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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