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Last Updated: 01/07/2026
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Found 2257 publications
Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher's disease.
Journal: BMJ case reports
Published: September 10, 2025
The Double Toxic MPTP+CBE Presymptomatic Parkinson-Like Phenotype in Mice.
Journal: Biochemistry. Biokhimiia
Published: August 31, 2025
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.
Journal: Neurogenetics
Published: August 25, 2025
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
Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease.
Journal: Frontiers in immunology
Published: August 06, 2025
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Journal: International journal of molecular sciences
Published: August 03, 2025
Intestinal Neutral Ceramidase Deficiency Triggers Regulatory T Cell Response via Gd3 to Protect the Host from Intestinal Inflammation.
Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Published: July 08, 2025
Gaucher disease, state of the art and perspectives.
Journal: Journal of internal medicine
Published: July 04, 2025
Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease.
Journal: Journal of inherited metabolic disease
Published: June 23, 2025
Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long-Term Outcome.
Journal: JIMD reports
Published: June 02, 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
Last Updated: 01/07/2026