Farber Lipogranulomatosis Latest Advances

Find the Latest Research About Farber Lipogranulomatosis

Last Updated: 06/30/2026

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Found 2294 publications

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies.

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies.

Journal: eLife
Published: June 23, 2026

Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum.

Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum.

Journal: Journal of child neurology
Published: May 23, 2026

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry.

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry.

Journal: Neurology
Published: May 05, 2026

Establishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy.

Establishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy.

Journal: Molecules (Basel, Switzerland)
Published: April 13, 2026

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target.

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target.

Journal: Journal of cellular and molecular medicine
Published: April 02, 2026

Reference intervals for lysosomal glucocerebrosidase activity in the healthy population.

Reference intervals for lysosomal glucocerebrosidase activity in the healthy population.

Journal: Scandinavian journal of clinical and laboratory investigation
Published: March 15, 2026

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

Effect of Glu235Ser on enzyme performance and in vitro characterization of human β-glucocerebrosidase in a Pichia pastoris.

Effect of Glu235Ser on enzyme performance and in vitro characterization of human β-glucocerebrosidase in a Pichia pastoris.

Journal: International journal of biological macromolecules
Published: February 22, 2026

Gaucher Disease Treated With Lentiviral-Mediated Gene Therapy: First Case.

Gaucher Disease Treated With Lentiviral-Mediated Gene Therapy: First Case.

Journal: Journal of inherited metabolic disease
Published: January 24, 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

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

Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.

Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.

Journal: Molecular genetics and metabolism
Published: December 16, 2025
Showing 1-12 of 2,294

Last Updated: 06/30/2026