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

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, 12 cases...

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Udgivet i:BMC Med Genet
Main Authors: Semyachkina, A. N., Voskoboeva, E. Y., Zakharova, E. Y., Nikolaeva, E. A., Kanivets, I. V., Kolotii, A. D., Baydakova, G. V., Kharabadze, M. N., Kuramagomedova, R. G., Melnikova, N. V.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498611/
https://ncbi.nlm.nih.gov/pubmed/31046699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0807-x
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