Acid Sphingomyelinase Deficiency (ASMD) Latest Advances
Find the Latest Research About Acid Sphingomyelinase Deficiency (ASMD)
Last Updated: 09/26/2026
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Found 2005 publications
Kidney Transplant in Niemann-Pick Disease Type B with Renal Involvement: A Case Report.
Journal: Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
Published: August 01, 2026
Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency.
Journal: Cells
Published: June 30, 2026
The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease.
Journal: International journal of molecular sciences
Published: May 29, 2026
A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient.
Journal: Molecular genetics and metabolism reports
Published: May 21, 2026
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
Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.
Journal: Molecular genetics and metabolism
Published: March 07, 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
Targeting CD44 reverses sphingomyelin-induced oligodendrocyte maturation arrest in acid sphingomyelinase deficiency.
Journal: EMBO molecular medicine
Published: February 25, 2026
Improvement in quality of life and general functions in pediatric acid sphingomyelinase deficiency patients after receiving olipudase alfa: A single-center experience in Taiwan.
Journal: Molecular genetics and metabolism reports
Published: February 24, 2026
Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B.
Journal: Molecular genetics and metabolism reports
Published: January 28, 2026
Last Updated: 09/26/2026