Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I

Articular Syndrome Characteristics in Children with Mucopolysaccharidosis Type I

Background. Mucopolysaccharidosis type I is disease from the group of lysosomal storage disease developing due to mutations in the IDUA gene. It leads to the accumulation of glycosaminoglycans (GAGs) in organs and tissues. Joints damage in this disease is systemic and progressive.Objective. The aim...

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Bibliographic Details
Main Authors: Nato D. Vashakmadze, Mikhail M. Kostik, Nataliya V. Zhurkova, Nataliya V. Buchinskaia, Ekaterina Yu. Zakharova, Margarita A. Soloshenko
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2021-12-01
Series:Вопросы современной педиатрии
Subjects:
mucopolysaccharidosis type i
hurler syndrome
scheie syndrome
alpha-l-iduronidase
joint contractures
multiple dysostosis
enzyme replacement therapy
Online Access:https://vsp.spr-journal.ru/jour/article/view/2805
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