Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

Abstract Background Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males. However, in the literature, 1...

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Bibliographic Details
Main Authors: A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova, N. V. Melnikova
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Мucopolysaccharidosis
Hunter syndrome
Turner syndrome
Iduronate 2-sulfatase
IDS gene
Online Access:http://link.springer.com/article/10.1186/s12881-019-0807-x

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http://link.springer.com/article/10.1186/s12881-019-0807-x

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