Gaucher Disease Type 1 Latest Advances

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

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

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

Pre-retinal deposits in Type 1 Gaucher disease.

Journal: Eye (London, England)

Published: July 29, 2025

Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.

Journal: Metabolites

Published: May 22, 2025

Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study.

Journal: Clinical case reports

Published: March 20, 2025

Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.

Journal: Journal of personalized medicine

Published: February 03, 2025

FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: December 10, 2024

FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease Type 1.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: December 10, 2024

Eliglustat substrate reduction therapy in children with Gaucher disease type 1.

Journal: Frontiers in pediatrics

Published: December 10, 2024

Addressing feature importance biases in machine learning models for early diagnosis of type 1 Gaucher disease.

Journal: Journal of clinical epidemiology

Published: November 13, 2024

An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease.

Journal: Blood cells, molecules & diseases

Published: November 05, 2024

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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.

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.

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.

Pre-retinal deposits in Type 1 Gaucher disease.

Pre-retinal deposits in Type 1 Gaucher disease.

Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.

Increased Lyso-Gb1 Levels in an Obese Splenectomized Gaucher Disease Type 1 Patient Treated with Eliglustat: Unacknowledged Poor Compliance or Underlying Factors.

Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study.

Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study.

Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.

Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.

FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1.

FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1.

FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease Type 1.

FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease Type 1.

Eliglustat substrate reduction therapy in children with Gaucher disease type 1.

Eliglustat substrate reduction therapy in children with Gaucher disease type 1.

Addressing feature importance biases in machine learning models for early diagnosis of type 1 Gaucher disease.

Addressing feature importance biases in machine learning models for early diagnosis of type 1 Gaucher disease.

An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease.

An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease.