Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous syste...

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Bibliographic Details
Published in:Вопросы современной педиатрии
Main Authors: Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2020-02-01
Subjects:
children
lysosomal diseases
mucopolysaccharidosis type ii
cardiovascular system
enzyme replacement therapy
idursulfase
Online Access:https://vsp.spr-journal.ru/jour/article/view/2264

Internet

https://vsp.spr-journal.ru/jour/article/view/2264

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