Search Results - Konstantin V. Jerdev

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    Orthopedic Pathology in Children with Mucopolysaccharidosis Type I

    Orthopedic Pathology in Children with Mucopolysaccharidosis Type I by 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

    Published 2016-12-01

    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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