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Last Updated: 01/07/2026
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Found 165 publications
Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Journal: Diagnostics (Basel, Switzerland)
Published: September 30, 2025
Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.
Journal: International journal of neonatal screening
Published: July 18, 2025
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism
Published: July 04, 2025
Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age.
Journal: Molecular genetics and metabolism reports
Published: June 04, 2025
Site-specific characterization of mannose-6-phosphate-containing N-glycans on recombinant idursulfase beta for lysosomal targeting in Hunter syndrome therapy.
Journal: International journal of biological macromolecules
Published: June 02, 2025
Carpal Tunnel Syndrome Attributed to Medication Use: A Pharmacovigilance Study.
Journal: Cureus
Published: May 12, 2025
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
Journal: JIMD reports
Published: April 25, 2025
Hypersensitivity Reaction and a Single-Bag Rapid Desensitization to Idursulfase.
Journal: American journal of medical genetics. Part A
Published: January 27, 2025
A link between baseline neurofilament light chain and primary substrate accumulation in cerebrospinal fluid, and clinical outcomes in patients with MPS II from a phase 2/3 clinical trial and extension study of intrathecal idursulfase.
Journal: Molecular genetics and metabolism
Published: October 25, 2024
Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 22, 2024
Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II.
Journal: PloS one
Published: September 01, 2024
Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review.
Journal: International journal of molecular sciences
Published: June 28, 2024
Last Updated: 01/07/2026