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

• Автори: Nato D. Vashakmadze (Автор), Leyla S. Namazova-Baranova (Автор), Natalia V. Zhurkova (Автор), Ekaterina Yu. Zakharova (Автор), Svetlana V. Mikhaylova (Автор), Grigory V. Revunenkov (Автор)
• Формат: Книга
• Опубліковано: "Paediatrician" Publishers LLC, 2019-09-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...