Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience

Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience

Abstract Background Mucopolysaccharidosis type I (MPS I) is a known autosomal recessive lysosomal-storage disorder. The disease is caused by a deficiency of the alpha-L-iduronidase (IDUA) enzyme, accumulating the glycosaminoglycans (GAGs) in body organs and a wide phenotypic spectrum. Aim of the wor...

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Main Authors: Ekram Fateen, Sally A. F. El Sahrigy, Mona Ibrahim, Rasha M. Elhossini, Hoda H. Ahmed, Asmaa Esmail, Amira Radwan, Iman Ibrahim Salama, Abeer M. NourElDin Abd ElBaky, Nada Ezzeldin, Azza M. O. Abdel Rahman, Mona Aglan
Format: Article
Language:English
Published: SpringerOpen 2025-03-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Mucopolysaccharidosis type I (MPS-I)
ERT
Glycosaminoglycans (GAGs)
Cardiovascular
Respiratory function tests
Hepatomegaly
Online Access:https://doi.org/10.1186/s43042-025-00668-w
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