Gaucher Disease Latest Advances

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Journal: Clinics in chest medicine

Published: October 19, 2025

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

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.

Journal: Cureus

Published: September 10, 2025

Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation.

Journal: Research square

Published: September 02, 2025

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.

Journal: Journal of clinical medicine

Published: September 02, 2025

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

Journal: Neurogenetics

Published: August 25, 2025

Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome.

Journal: Pediatric nephrology (Berlin, Germany)

Published: August 13, 2025

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Journal: Molecular genetics and metabolism reports

Published: August 04, 2025

Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.

Journal: Medical sciences (Basel, Switzerland)

Published: August 01, 2025

Pre-retinal deposits in Type 1 Gaucher disease.

Journal: Eye (London, England)

Published: July 29, 2025

Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism.

Journal: bioRxiv : the preprint server for biology

Published: July 16, 2025

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Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

Pulmonary Manifestations of Lysosomal Storage Disorders in Adults.

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.

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.

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

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

Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation.

Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation.

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.

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.

Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome.

Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome.

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.

Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.

Pre-retinal deposits in Type 1 Gaucher disease.

Pre-retinal deposits in Type 1 Gaucher disease.

Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism.

Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism.