Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)-Reference-Cited by-同舟云学术

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Published:2017-12-06 Issue:2 Volume:176 Page:301-310
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ficicioglu Can¹^ORCID,Giugliani Roberto²^ORCID,Harmatz Paul³,Mendelsohn Nancy J.⁴⁵,Jego Virginie⁶,Parini Rossella⁷

Affiliation:

1. Division of Human Genetics and MetabolismThe Children's Hospital of PhiladelphiaPerelman School of MedicineUniversity of PennsylvaniaPhiladelphiaPennsylvania

2. Department of Genetics/UFRGS and INAGEMPMedical Genetics Service/HCPAPorto AlegreBrazil

3. UCSF Benioff Children's Hospital OaklandOaklandCalifornia

4. Genomic Medicine ProgramChildren's Hospitals and Clinics of MinnesotaMinneapolisMinnesota

5. Division of GeneticsDepartment of PediatricsUniversity of MinnesotaMinneapolisMinnesota

6. Cytel, Inc.GenevaSwitzerland

7. Rare Metabolic Disease UnitPediatric DepartmentFondazione MBBMSan Gerardo HospitalMonzaItaly

Funder

Shire

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38551

Reference37 articles.

1. Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed

2. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

3. Cumulative incidence rates of the mucopolysaccharidoses in Germany

4. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II — data from the Hunter Outcome Survey

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