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

This study highlights distinct genotype-phenotype correlations in ASMD and supports the clinical benefits of olipudase alfa. Increased awareness and early diagnosis, potentially through newborn screening, are essential for optimizing outcomes in ASMD.

Authors

Institutions

Publication Details

Journal
Molecular Genetics & Genomic Medicine
Published
2026-02-01
DOI
https://doi.org/10.1002/mgg3.70204
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Steven Shinn‐Forng Peng, Rai‐Hseng Hsu, Yen‐Yin Chou, Hui‐An Chen et al.
Molecular Genetics & Genomic Medicine
Lysosomal Storage Disorders Research
article

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

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

Abstract

This study highlights distinct genotype-phenotype correlations in ASMD and supports the clinical benefits of olipudase alfa. Increased awareness and early diagnosis, potentially through newborn screening, are essential for optimizing outcomes in ASMD.

Molecular Genetics & Genomic MedicineVol. 14(2)
Kaohsiung Medical University (TW), National Taiwan University (TW), China Medical University (TW), China Medical University Hospital (TW), National Taiwan University Hospital (TW), Kaohsiung Veterans General Hospital (TW), National Cheng Kung University Hospital (TW), Changhua Christian Hospital (TW)
Sanofi, National Taiwan University Hospital, National Taiwan University, Kaohsiung Veterans General Hospital
Openalex Percentile: Top 53%
Lysosomal Storage Disorders Research
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan — Steven Shinn‐Forng Peng, Rai‐Hseng Hsu, et al. · Molecular Genetics & Genomic Medicine (2026) | TGRS Research Map | TGRS