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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发表在:	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
格式:	文件
语言:	英语
出版:	"Paediatrician" Publishers LLC 2020-02-01
主题:	children lysosomal diseases mucopolysaccharidosis type ii cardiovascular system enzyme replacement therapy idursulfase
在线阅读:	https://vsp.spr-journal.ru/jour/article/view/2264