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Last Updated: 08/17/2025

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Found 1966 publications

Sphingomyelin-induced glucocorticoid receptor alterations lead to impaired presynaptic plasticity in acid sphingomyelinase deficient neurons.

Sphingomyelin-induced glucocorticoid receptor alterations lead to impaired presynaptic plasticity in acid sphingomyelinase deficient neurons.

Journal: Neurobiology of disease
Published: April 08, 2025

Cardiovascular Dysfunction and Altered Lysosomal Signaling in a Murine Model of Acid Sphingomyelinase Deficiency.

Cardiovascular Dysfunction and Altered Lysosomal Signaling in a Murine Model of Acid Sphingomyelinase Deficiency.

Journal: Research square
Published: April 01, 2025

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors.

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

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

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

Journal: Orphanet journal of rare diseases
Published: February 24, 2025

From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.

From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.

Journal: Diagnostics (Basel, Switzerland)
Published: February 15, 2025

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.

Journal: Diseases (Basel, Switzerland)
Published: February 15, 2025

Short-Term Acid Sphingomyelinase Deficiency Exerts Proinflammatory and Antiapoptotic Effects during LPS-induced Lung Injury in Mice.

Short-Term Acid Sphingomyelinase Deficiency Exerts Proinflammatory and Antiapoptotic Effects during LPS-induced Lung Injury in Mice.

Journal: American journal of respiratory cell and molecular biology
Published: February 07, 2025

Short Term Acid Sphingomyelinase Deficiency Exerts Proinflammatory and Antiapoptotic Effects During LPS-induced Lung Injury in Mice.

Short Term Acid Sphingomyelinase Deficiency Exerts Proinflammatory and Antiapoptotic Effects During LPS-induced Lung Injury in Mice.

Journal: American journal of respiratory cell and molecular biology
Published: February 07, 2025

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

Journal: Journal of hematopathology
Published: February 03, 2025

Acid sphingomyelinase deficiency: A review

Acid sphingomyelinase deficiency: A review

Journal: La Revue de medecine interne
Published: January 30, 2025

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study.

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study.

Journal: Molecular genetics and metabolism reports
Published: January 06, 2025

Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort.

Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort.

Journal: Molecular genetics and metabolism
Published: December 22, 2024
Showing 1-12 of 1,966

Last Updated: 08/17/2025