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
Current and Emerging Treatments for Acid Sphingomyelinase Deficiency.
Silva Alves T et al.
Drugs, 2025
Reduced native T1 on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B.
Redzepi B et al.
American Heart Journal Plus : Cardiology Research and Practice, 2025
[Acid sphingomyelinase deficiency: A review].
Michaud M et al.
La Revue De Medecine Interne, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.
Scarpa M et al.
Journal of Inherited Metabolic Disease, 2025
Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study.
Sinha DB et al.
Molecular Genetics and Metabolism Reports, 2025
A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.
Gedallovich J et al.
Journal of Hematopathology, 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
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.
Morado Arias M et al.
Diseases (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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
Eskes ECB et al.
Journal of Inherited Metabolic Disease, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report.
Bridi GDP et al.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 2024
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report.
Van Baelen A et al.
Molecular Genetics and Metabolism Reports, 2024
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
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.
Eskes ECB et al.
Jimd 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
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.
Giacomarra M et al.
Journal of Clinical Medicine, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Tirelli C et al.
Biomolecules, 2024
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano G et al.
International Journal of Molecular Sciences, 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
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Case report: The spectrum of SMPD1 pathogenic variants in Hungary.
Molnar MJ et al.
Frontiers in Genetics, 2023
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA et al.
Orphanet Journal of Rare Diseases, 2022
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Multiple myeloma occurring in a case of Niemann-Pick disease Type B: A pathophysiological link?
Portier E et al.
British Journal of Haematology, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Pinto C et al.
International Journal of Molecular Sciences, 2021
Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease.
Eskes ECB et al.
Jimd Reports, 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
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic 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