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
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry.
Lim SY et al.
Journal of Movement Disorders, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 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
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Pinto C et al.
International Journal of Molecular Sciences, 2021
Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
La Cognata V et al.
International Journal of Molecular Sciences, 2021
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Diaz GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
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
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Robak LA et al.
Brain : a Journal of Neurology, 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
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P et al.
American Journal of Medical Genetics. Part A, 2016
Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.
Deng S et al.
Molecular Neurobiology, 2016
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
Association study between SMPD1 p.L302P and sporadic Parkinson's disease in ethnic Chinese population.
Li K et al.
International Journal of Clinical and Experimental Medicine, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
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
High-throughput carrier screening using TaqMan allelic discrimination.
Fedick A et al.
Plos One, 2013