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Last Updated: 10/31/2025
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Found 88 publications
A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder.
Journal: bioRxiv : the preprint server for biology
Published: August 06, 2025
Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome.
Journal: JIMD reports
Published: June 02, 2025
Broadening the mutational spectrum of ASAH1, as a susceptibility gene for keloids.
Journal: Journal of human genetics
Published: May 14, 2025
Genetic analysis of a fetus with Farber lipogranulomatosis caused by ASAH1 gene variant
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 11, 2025
Ceramide toxicity in cardiomyocytes: from Farber disease to cardiovascular diseases.
Journal: American journal of physiology. Heart and circulatory physiology
Published: December 20, 2024
Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.
Journal: American journal of physiology. Heart and circulatory physiology
Published: December 12, 2024
Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency
Journal: Medecine sciences : M/S
Published: November 18, 2024
Novel cutaneous manifestations of a pediatric patient with Farber lipogranulomatosis.
Journal: JAAD case reports
Published: August 26, 2024
Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: May 09, 2024
Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease.
Journal: Molecular genetics and metabolism reports
Published: November 17, 2023
Last Updated: 10/31/2025