Associated Papers
[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
From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.
Vlad RM et al.
Diagnostics (basel, Switzerland), 2025
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.
Girard S et al.
Hemasphere, 2024
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
Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency.
Fiori L et al.
Molecular Genetics and Metabolism Reports, 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
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.
Giacomarra M et al.
Journal of Clinical Medicine, 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
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 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: A Clinical and Immunological Perspective.
Pinto C et al.
International Journal of Molecular Sciences, 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
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Alcalay RN et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Lipiński P et al.
Orphanet Journal of Rare Diseases, 2019
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
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
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
Lidove O et al.
La Revue De Medecine Interne, 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
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