Farber Lipogranulomatosis Latest Advances

Find the Latest Research About Farber Lipogranulomatosis

Last Updated: 02/24/2026

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Found 2265 publications

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.

Journal: The American journal of case reports
Published: January 15, 2026

Homozygous GBA1 p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization.

Homozygous GBA1 p.T82I variant in type 1 Gaucher disease: clinical and biochemical characterization.

Journal: Personalized medicine
Published: December 24, 2025

Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies.

Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies.

Journal: International journal of molecular sciences
Published: November 05, 2025

Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher's disease.

Clinical utility of bone marrow biopsy and significance of early diagnosis of Gaucher's disease.

Journal: BMJ case reports
Published: September 10, 2025

Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence.

Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence.

Journal: Genes
Published: September 05, 2025

The Double Toxic MPTP+CBE Presymptomatic Parkinson-Like Phenotype in Mice.

The Double Toxic MPTP+CBE Presymptomatic Parkinson-Like Phenotype in Mice.

Journal: Biochemistry. Biokhimiia
Published: August 31, 2025

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts.

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts.

Journal: Journal of cellular biochemistry
Published: August 26, 2025

Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.

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.

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.

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.

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

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.

Journal: Journal of inherited metabolic disease
Published: July 14, 2025
Showing 1-12 of 2,265

Last Updated: 02/24/2026