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Last Updated: 10/31/2025
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Found 65 publications
Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease.
Journal: Frontiers in pediatrics
Published: April 01, 2025
Product Development of High-Dose Ambroxol HCl Capsules for an n-of-1 Clinical Trial Involving Dutch Patients with Gaucher Disease Type 3.
Journal: Pharmaceutics
Published: February 26, 2025
Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 21, 2024
Pediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report.
Journal: Children (Basel, Switzerland)
Published: July 03, 2024
Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.
Journal: Orphanet journal of rare diseases
Published: June 12, 2024
Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy.
Journal: Molecular genetics and metabolism reports
Published: January 29, 2024
Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3.
Journal: Molecular genetics and metabolism
Published: December 22, 2023
A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment.
Journal: Acta neurologica Belgica
Published: October 07, 2023
Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
Journal: Blood cells, molecules & diseases
Published: July 18, 2022
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3.
Journal: Molecular genetics and metabolism reports
Published: April 08, 2022
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.
Journal: Brain : a journal of neurology
Published: February 16, 2022
Last Updated: 10/31/2025