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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Main Authors: | Nato D. Vashakmadze, Natalia V. Zhurkova, Leyla S. Namazova-Baranova, Nina V. Fedorova, Marina A. Babaykina |
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Format: | Article |
Language: | English |
Published: |
"Paediatrician" Publishers LLC
2021-03-01
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Series: | Вопросы современной педиатрии |
Subjects: | |
Online Access: | https://vsp.spr-journal.ru/jour/article/view/2561 |
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