Associated Papers
Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup.
Arafa NA et al.
Molecular Genetics and Metabolism Reports, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Alipouran F et al.
Reports of Biochemistry & Molecular Biology, 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
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
Kavčič A et al.
The American Journal of Case Reports, 2022
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R et al.
Journal of Molecular Neuroscience : Mn, 2022
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy.
Sechi A et al.
Molecular Genetics and Metabolism Reports, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Hashemian S et al.
Iranian Journal of Child Neurology, 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
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
Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).
Manshadi MD et al.
International Journal of Molecular Sciences, 2015
Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.
Dalal PG et al.
F1000research, 2015
Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.
Aykut A et al.
Gene, 2013
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Desnick JP et al.
Molecular Medicine (cambridge, Mass.), 0