Associated Papers
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
Ota S et al.
The Tohoku Journal of Experimental Medicine, 2020
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 and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Desnick JP et al.
Molecular Medicine (cambridge, Mass.), 0
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