Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

• Main Authors: Nato D. Vashakmadze (Author), Leyla S. Namazova-Baranova (Author), Natalia V. Zhurkova (Author), Ekaterina Yu. Zakharova (Author), Grigory V. Revunenkov (Author), Tina V. Lobjanidze (Author), Marina A. Babaikina (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...