Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes

Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes

Abstract Background Acid Sphingomyelinase Deficiency (ASMD) type B is a rare lysosomal disorder caused by SMPD1 mutations. Due to its low prevalence and clinical heterogeneity, diagnosis is challenging, and detection is crucial for the initiation of enzyme replacement therapy. Methods We conducted a...

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Bibliographic Details
Main Authors: Thomas Villeneuve, Thibaut Jamme, Robin Schwob, Thierry Levade, Grégoire Prévot
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare disease diagnosis
Metabolic disease
ASMD type B
Niemann pick B disease
Online Access:https://doi.org/10.1186/s13023-025-03746-9
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