Associated Papers
Reduced native T1 on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B.
Redzepi B et al.
American Heart Journal Plus : Cardiology Research and Practice, 2025
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
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Tirelli C et al.
Biomolecules, 2024
Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency.
Deodato F et al.
Frontiers in Pediatrics, 2024
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
McGovern MM et al.
Orphanet Journal of Rare Diseases, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report.
Nasereddin A et al.
Journal of Medical Case Reports, 2018
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Mercati O et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.
Irun P et al.
Clinical Genetics, 2013
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.
Tóth B et al.
Jimd Reports, 2012
[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization].
Cho YU et al.
The Korean Journal of Laboratory Medicine, 2009