Associated Papers
Current and Emerging Treatments for Acid Sphingomyelinase Deficiency.
Silva Alves T et al.
Drugs, 2025
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.
El-Mezayen M et al.
Molecular and Cellular Pediatrics, 2025
[Acid sphingomyelinase deficiency: A review].
Michaud M et al.
La Revue De Medecine Interne, 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
Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child.
Al Shahrani AM et al.
Cureus, 2024
Niemann-Pick type C disease: Case report and review of the literature.
Liu C et al.
Neuro Endocrinology Letters, 2023
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T et al.
Orphanet Journal of Rare Diseases, 2023
Niemann-Pick Disease: A Case Report and Literature Review.
Vélez Pinos PJ et al.
Cureus, 2023
Natural history and management of liver dysfunction in lysosomal storage disorders.
Sen Sarma M et al.
World Journal of Hepatology, 2022
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
McGovern MM et al.
Orphanet Journal of Rare Diseases, 2017
Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.
Torres S et al.
Frontiers in Physiology, 2017
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.
Acuña M et al.
Biochemical and Biophysical Research Communications, 2016
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman D et al.
Molecular Genetics and Metabolism, 2016
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Acuña M et al.
European Journal of Human Genetics : Ejhg, 2016
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)].
Higaki K et al.
Ryoikibetsu Shokogun Shirizu, 1998
[Niemann-Pick disease].
Kudoh T
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1988
[Basic study on ocular manifestation of Niemann-Pick disease. Part 1. Morphological study of the retina and choroid of "Niemann-Pick" mice].
Hagita K et al.
Nippon Ganka Gakkai Zasshi, 1986
Types A and B Niemann-Pick disease.
Schuchman EH et al.
Molecular Genetics and Metabolism, 0