Last Updated: 09/26/2026
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Found 37 publications
Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.
Journal: Journal of clinical medicine
Published: January 19, 2026
Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses.
Journal: Molecular genetics and metabolism
Published: June 25, 2024
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Journal: Journal of clinical medicine
Published: April 19, 2024
Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) Registry.
Journal: Journal of clinical medicine
Published: March 25, 2024
Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.
Journal: Journal of the neurological sciences
Published: February 27, 2024
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
Journal: Molecular genetics and metabolism
Published: January 10, 2024
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism reports
Published: August 24, 2023
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158".
Journal: Journal of clinical medicine
Published: March 07, 2023
Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: February 03, 2023
Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: September 11, 2022
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).
Journal: Journal of clinical medicine
Published: July 14, 2022
Last Updated: 09/26/2026