Jennifer Audi
Zurich, ZH, Switzerland
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism
Published: June 17, 2025
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
Journal: JIMD reports
Published: April 25, 2025
An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.
Journal: BMC health services research
Published: November 01, 2024
A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.
Journal: International journal of neonatal screening
Published: July 19, 2024
Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.
Journal: Orphanet journal of rare diseases
Published: July 02, 2024
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.
Journal: Orphanet journal of rare diseases
Published: June 27, 2024
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Journal: Molecular genetics and metabolism
Published: May 22, 2024
Patient preferences in genetic newborn screening for rare diseases: study protocol.
Journal: BMJ open
Published: April 20, 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
Showing 1-9 of 9
Last Updated: 09/26/2026