Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience-Reference-Cited by-同舟云学术

Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience

Published:2024 Issue: Volume:12 Page:
ISSN:2326-4594
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:
Short-container-title:J. inborn errors metab. screen.

Author:

Stepien Karolina M.¹^ORCID,Treacy Max²,Katiri Roulla³,Treacy Eileen P.⁴,Pastores Gregory³,Sheerin Alison³,Brosnahan Donal²,Crushell Ellen⁵,O’Byrne James J.⁶

Affiliation:

1. Northern Care Alliance NHS Foundation Trust, Reino Unido; University of Manchester, Reino Unido

2. Royal Victoria Eye and Ear Hospital, Irlanda

3. The Mater Misericordia University Hospital, Irlanda

4. The Mater Misericordia University Hospital, Irlanda; Trinity College Dublin, Irlanda

5. National Centre for Inherited Metabolic Disorders, Irlanda; Trinity College Dublin, Irlanda

6. The Mater Misericordia University Hospital, Irlanda; Trinity College Dublin, Irlanda; University College Dublin, Irlanda

Publisher

FapUNIFESP (SciELO)

Link

http://www.scielo.br/scielo.php?script=sci_pdf&pid=S2326-45942024000100302&tlng=en

Reference50 articles.

1. The online metabolic and molecular bases of inherited disease;Neufeld EF,2007

2. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment;Giugliani R;Genet Mol Biol,2010

3. Advances in the treatment of mucopolysaccharidosis type I;Muenzer J;N Engl J Med,2004

4. The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I;Pastores GM;Mol Genet Metab,2007

5. IDUA mutations;The Human Genome Mutation Database (HGMD)