Acid Sphingomyelinase Deficiency (ASMD) Latest Advances
Find the Latest Research About Acid Sphingomyelinase Deficiency (ASMD)
Last Updated: 06/30/2026
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Found 1995 publications
Contradictory Effects on Hepatocytes in ASMD.
Journal: International journal of molecular sciences
Published: May 15, 2026
Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review
Journal: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
Published: April 16, 2026
Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center.
Journal: Molecular genetics and metabolism reports
Published: March 17, 2026
Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit-Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan.
Journal: International journal of neonatal screening
Published: March 02, 2026
Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease.
Journal: Orphanet journal of rare diseases
Published: January 24, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results.
Journal: Journal of inherited metabolic disease
Published: January 08, 2026
Olipudase alfa IgE-mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: December 01, 2025
Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.
Journal: Orphanet journal of rare diseases
Published: November 26, 2025
New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.
Journal: Journal of lipid research
Published: October 24, 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
A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.
Journal: Journal of clinical medicine
Published: September 26, 2025
Last Updated: 06/30/2026