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Last Updated: 10/31/2025
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Found 1976 publications
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
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
Sphingomyelin-induced glucocorticoid receptor alterations lead to impaired presynaptic plasticity in acid sphingomyelinase deficient neurons.
Journal: Neurobiology of disease
Published: April 08, 2025
Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt.
Journal: Molecular and cellular pediatrics
Published: April 04, 2025
c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors.
Journal: Antioxidants (Basel, Switzerland)
Published: March 19, 2025
Last Updated: 10/31/2025