Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases

• Main Authors: Nato D. Vashakmadze (Author), Leyla S. Namazova-Baranova (Author), Natalia V. Zhurkova (Author), Ekaterina Yu. Zakharova (Author), Svetlana V. Mikhaylova (Author), Grigory V. Revunenkov (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2019-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5-4 cases on 100.000 live-birth infants. Meant...