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References from Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings. Local targets link to admitted publications; unresolved targets remain external evidence.
Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
10.1007/s10545-017-0075-x · 2017 · External reference
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey
10.1097/gim.0b013e318206786f · 2011 · External reference
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls
10.1007/s00431-012-1703-y · 2012 · External reference
Understanding the early presentation of mucopolysaccharidoses disorders: results of a systematic literature review and physician survey
10.1177/2326409818800346 · 2018 · External reference
The patient journey of patients with Fabry disease, Gaucher disease and mucopolysaccharidosis type II: a German-wide telephone survey
10.1371/journal.pone.0244279 · 2020 · External reference
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
10.1186/s13023-015-0259-0 · 2015 · External reference
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the Hunter Outcome Survey (HOS)
10.1186/s13023-017-0712-3 · 2017 · External reference
Early initiation of enzyme replacement therapy for the mucopolysaccharidoses
10.1016/j.ymgme.2013.11.015 · 2014 · External reference
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
10.1097/01.gim.0000232477.37660.fb · 2006 · External reference
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy
10.1038/gim.2013.162 · 2014 · External reference
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-year follow up
2017 · External reference
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up
10.1111/j.1651-2227.2011.02385.x · 2012 · External reference
Enzyme replacement therapy in mucopolysaccharidosis II patients under 1 year of age
2014 · External reference
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
2025 · External reference
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
10.1186/1750-1172-6-72 · 2011 · External reference
Newborn screening program for mucopolysaccharidosis type II and long-term follow-up of the screen-positive subjects in Taiwan
10.3390/jpm12071023 · 2022 · External reference
Unresolved reference
External reference
Wilson and Jungner revisited: are screening criteria fit for the 21st century?
10.3390/ijns10030062 · 2024 · External reference
Newborn screening for mucopolysaccharidosis type II in Illinois: an update
10.3390/ijns6030073 · 2020 · External reference
A systematic literature review on the global status of newborn screening for mucopolysaccharidosis II
10.3390/ijns10040071 · 2024 · External reference
Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: results from an international modified Delphi consensus
10.1016/j.ymgme.2025.109285 · 2025 · External reference
Effectiveness of idursulfase in patients with mucopolysaccharidosis type II: an international (non-US), retrospective chart review of treatment initiation in very young patients [poster presentation]
10.1016/j.ymgme.2025.109461 · 2026 · External reference
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
10.1186/s13023-021-01743-2 · 2021 · External reference
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
10.1007/s10545-011-9359-8 · 2011 · External reference
Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy
10.1002/jimd.12808 · 2025 · External reference
Timing is everything: clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
2022 · External reference
Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses
10.1016/j.ymgme.2020.02.006 · 2020 · External reference
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses
10.1002/mgg3.471 · 2018 · External reference
Mucopolysaccharidosis IVA and glycosaminoglycans
10.1016/j.ymgme.2016.11.007 · 2017 · External reference
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
2024 · External reference
Age-dependent reference intervals for cerebrospinal fluid and urine biomarkers of mucopolysaccharidoses
10.1016/j.ymgme.2026.109862 · 2026 · External reference
Chapter one - Glycosaminoglycans in mucopolysaccharidoses and other disorders
10.1016/bs.acc.2024.06.011 · 2024 · External reference
Screening for mucopolysaccharidoses in the Turkish population: analytical and clinical performance of an age-range specific, dye-based, urinary glycosaminoglycan assay
10.1016/j.cca.2016.11.015 · 2017 · External reference
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study
10.1111/j.1399-0004.2009.01324.x · 2010 · External reference
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
10.1016/j.ymgme.2006.09.001 · 2007 · External reference
Intrauterine enzyme replacement therapies for lysosomal storage disorders: current developments and promising future prospects
10.1002/pd.6460 · 2023 · External reference
Prenatal delivery of enzyme replacement therapy to fetuses affected by early-onset lysosomal storage diseases
10.1002/ajmg.c.32132 · 2025 · External reference
Report of a large Brazilian family with a very attenuated form of Hunter syndrome (MPS II)
2012 · External reference