Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
38866761 (PubMed )
Supplement: 41439_2024_282_MOESM2_ESM.xlsx › Supp_Table_2
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
36907956 (PubMed )
Supplement: 41065_2023_272_MOESM3_ESM.xlsx › Sheet1
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D et al.
Human Mutation, 2021
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
McGovern MM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
Dardis A et al.
Human Mutation, 2005
A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase.
Seto M et al.
Protein Science : a Publication of the Protein Society, 2004
Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing.
Schuchman EH et al.
Genetic Testing, 1997
Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.
Takahashi T et al.
The Tohoku Journal of Experimental Medicine, 1995
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
Takahashi T et al.
The Journal of Biological Chemistry, 1992
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.
Wasserstein MP et al.
Molecular Genetics and Metabolism, 0
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