Hunter Syndrome: Clinical Case of Early Diagnostics

Hunter Syndrome: Clinical Case of Early Diagnostics

Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description. Mucopolysaccharidosis type II (Hunter syndrome) diagnosis at the age of 12 months was based on c...

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Bibliographic Details
Main Authors: Natalya N. Martynovich, Yulia P. Semshchikova, Natalya Yu. Rudenko, Vera M. Shinkareva, Kristina V. Egorycheva
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2020-11-01
Series:Педиатрическая фармакология
Subjects:
clinical case of mucopolysaccharidosis
lysosomal storage diseases
hunter syndrome
congenital defect of glycosaminoglycans metabolism
idursulfase
iduronate-2-sulfatase
enzyme replacement therapy
infants
Online Access:https://www.pedpharma.ru/jour/article/view/1905
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