Associated Papers
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.
Lin HH et al.
Molecular Genetics & Genomic Medicine, 2026
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Arslan N et al.
Frontiers in Pediatrics, 2023
Natural history and management of liver dysfunction in lysosomal storage disorders.
Sen Sarma M et al.
World Journal of Hepatology, 2022
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.
Lan MY et al.
Annals of Hematology, 2009
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
Wasserstein MP et al.
The Journal of Pediatrics, 2006
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
Wasserstein MP et al.
Pediatrics, 2004
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Simonaro CM et al.
American Journal of Human Genetics, 2002
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