Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 5875 publications

Patient-Specific Midbrain Organoids with CRISPR Correction Reveal Disease Mechanisms and Enable Therapeutic Evaluation in Neuronopathic Gaucher Disease.

Patient-Specific Midbrain Organoids with CRISPR Correction Reveal Disease Mechanisms and Enable Therapeutic Evaluation in Neuronopathic Gaucher Disease.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.

Journal: Clinical pediatrics
Published: November 21, 2025

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Journal: Orphanet journal of rare diseases
Published: November 18, 2025

Bone infarctions-from pathophysiology to imaging

Bone infarctions-from pathophysiology to imaging

Journal: Radiologie (Heidelberg, Germany)
Published: October 26, 2025

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Journal: Clinics in chest medicine
Published: October 19, 2025

GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson's Disease.

GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson's Disease.

Journal: Biomedicines
Published: October 13, 2025

Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant.

Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT-CDG: Expanding the Clinical Spectrum With a Novel Pathogenic Variant.

Journal: Clinical genetics
Published: October 03, 2025

Microbiome-gut-heart axis in cardiac complications of Gaucher disease type 3.

Microbiome-gut-heart axis in cardiac complications of Gaucher disease type 3.

Journal: Annals of medicine and surgery (2012)
Published: October 01, 2025

A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction.

A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction.

Journal: bioRxiv : the preprint server for biology
Published: October 01, 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

Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.

Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.

Journal: Cureus
Published: September 10, 2025
Showing 1-12 of 5,875

Last Updated: 01/07/2026