Farber Lipogranulomatosis Latest Advances

Find the Latest Research About Farber Lipogranulomatosis

Last Updated: 04/28/2026

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Found 2286 publications

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Journal: Journal of internal medicine
Published: February 28, 2026

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

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.

Journal: International journal of molecular sciences
Published: December 24, 2025

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

Convergent molecular pathways to inherited Parkinson's disease.

Convergent molecular pathways to inherited Parkinson's disease.

Journal: Current opinion in cell biology
Published: December 03, 2025

Quantitative and Comparative Assessment of Recombinant Human β-Glucocerebrosidase Uptake Bioactivity Using a Stable hMMR-Expressing CHO Cell Model.

Quantitative and Comparative Assessment of Recombinant Human β-Glucocerebrosidase Uptake Bioactivity Using a Stable hMMR-Expressing CHO Cell Model.

Journal: Molecules (Basel, Switzerland)
Published: November 27, 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

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.

Journal: Journal of inherited metabolic disease
Published: October 09, 2025

Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review.

Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review.

Journal: Neonatology
Published: September 23, 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

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 05, 2025
Showing 1-12 of 2,286

Last Updated: 04/28/2026