Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases

Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases

Background. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation. The GAG accumulation in lysosomes leads to dysfu...

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Bibliographic Details
Main Authors: Nato D. Vashakmadze, Natalia V. Zhurkova, Leyla S. Namazova-Baranova, Nina V. Fedorova, Marina A. Babaykina
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2021-03-01
Series:Вопросы современной педиатрии
Subjects:
дети
лизосомные болезни накопления
мукополисахаридоз ii типа
ненейропатическая форма
ферментозаместительная терапия
идурсульфаза
Online Access:https://vsp.spr-journal.ru/jour/article/view/2561

Internet

https://vsp.spr-journal.ru/jour/article/view/2561

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