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...
| Κύριοι συγγραφείς: | , , , , |
|---|---|
| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
"Paediatrician" Publishers LLC
2021-03-01
|
| Σειρά: | Вопросы современной педиатрии |
| Θέματα: | |
| Διαθέσιμο Online: | https://vsp.spr-journal.ru/jour/article/view/2561 |