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

Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase (IDUA), which is necessary for the degradation of glycosaminoglycans (GAGs). This study outlines the long-term outcomes in adult Irish patie...

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Auteurs principaux:	Karolina M. Stepien, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory Pastores, Alison Sheerin, Donal Brosnahan, Ellen Crushell, James J. O’Byrne
Format:	Artigo
Langue:	Inglês
Publié:	Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2024-07-01
Collection:	Journal of Inborn Errors of Metabolism and Screening
Sujets:	Mucopolysaccharidosis type I MPS IH Hurler syndrome Haematopoietic stem cell transplantation long-term outcomes
Accès en ligne:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942024000100302&lng=en&tlng=en
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