Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases

• Main Authors: Nato D. Vashakmadze (Author), Natalia V. Zhurkova (Author), Leyla S. Namazova-Baranova (Author), Nina V. Fedorova (Author), Marina A. Babaykina (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...