Acid Sphingomyelinase Deficiency (ASMD) Latest Advances

Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.

Journal: Orphanet journal of rare diseases

Published: November 26, 2025

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Journal: Clinics in chest medicine

Published: October 19, 2025

Lysosomal Storage Disorders.

Journal: Seminars in respiratory and critical care medicine

Published: October 03, 2025

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.

Journal: Molecular and cellular pediatrics

Published: August 09, 2025

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.

Journal: Neurobiology of disease

Published: July 25, 2025

Identification of Cepharanthine as a Potential Therapy of Acid Sphingomyelinase Deficiency by Reducing Cellular Sphingosylphosphorylcholine.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.

Journal: Frontiers in pediatrics

Published: June 18, 2025

Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis.

Journal: American journal of medical genetics. Part A

Published: June 16, 2025

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency.

Journal: EJHaem

Published: June 13, 2025

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.

Journal: International journal of molecular sciences

Published: May 29, 2025

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.

Journal: Journal of inherited metabolic disease

Published: May 06, 2025

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study.

Journal: Orphanet journal of rare diseases

Published: May 02, 2025

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Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.

Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Lysosomal Storage Disorders.

Lysosomal Storage Disorders.

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.

Identification of Cepharanthine as a Potential Therapy of Acid Sphingomyelinase Deficiency by Reducing Cellular Sphingosylphosphorylcholine.

Identification of Cepharanthine as a Potential Therapy of Acid Sphingomyelinase Deficiency by Reducing Cellular Sphingosylphosphorylcholine.

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.

Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis.

Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis.

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency.

Foamy Macrophages and Blue Histiocytes as Diagnostic Clues to Acid Sphingomyelinase Deficiency.

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study.

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study.