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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2026-02-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	ASMD NBS Niemann–pick disease type A/B Olipudase alfa SMPD1
On-line přístup:	https://doi.org/10.1002/mgg3.70204
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!