Orthopedic Pathology in Children with Mucopolysaccharidosis Type I

Orthopedic Pathology in Children with Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. T...

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Bibliographic Details
Main Authors: Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Anait K. Gevorkian, Ludmila M. Kuzenkova, Tatiana V. Podkletnova, Marina A. Babaykina, Anatoly B. Anikin, Galina B. Kuznetsova, Liliya A. Osipova, Konstantin V. Jerdev
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2016-12-01
Series:Вопросы современной педиатрии
Subjects:
mucopolysaccharidosis
hurler syndrome
scheie syndrome
hurler-scheie syndrome
dysostosis
articular syndrome
enzyme replacement therapy
Online Access:https://vsp.spr-journal.ru/jour/article/view/1693
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