Associated Papers
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_MOESM1_ESM.xlsx › Sheet1
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hu J et al.
Human Mutation, 2021
The Effects of Liver Transplantation in Children With Niemann-Pick Disease Type B.
Liu Y et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2019
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
27435900 (PubMed )
Supplement: ncomms12196-s1.pdf
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2013
A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.
Hua R et al.
Chinese Medical Journal, 2012
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Desnick JP et al.
Molecular Medicine (cambridge, Mass.), 0
Select a paper to view details