Associated Papers
Current and Emerging Treatments for Acid Sphingomyelinase Deficiency.
Silva Alves T et al.
Drugs, 2025
[Acid sphingomyelinase deficiency: A review].
Michaud M et al.
La Revue De Medecine Interne, 2025
Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort.
Froissart R et al.
Molecular Genetics and Metabolism, 2025
Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.
Kamalova A et al.
Frontiers in Pediatrics, 2025
Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.
Lipiński P et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2024
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
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
Jerves Serrano T et al.
Journal of Clinical Medicine, 2024
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Murgasova L et al.
Virchows Archiv : an International Journal of Pathology, 2024
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
Case report: The spectrum of SMPD1 pathogenic variants in Hungary.
Molnar MJ et al.
Frontiers in Genetics, 2023
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Arslan N et al.
Frontiers in Pediatrics, 2023
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.
Blümlein U et al.
Molecular Genetics and Metabolism Reports, 2022
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Pinto C et al.
International Journal of Molecular Sciences, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Interstitial lung disease in lysosomal storage disorders.
Borie R et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 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
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Wasserstein M et al.
Molecular Genetics and Metabolism, 2019
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
Wang N et al.
Human Mutation, 2017
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
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
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 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