Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl-Reference-Cited by-同舟云学术

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

Published:2019-05-02 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Semyachkina A. N.^ORCID,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.

Funder

Russian Ministry of Health

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

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

Reference10 articles.

1. Harmatza P, Muenzerb J, Burtonc B, et al. Update on Phase 1/2 Clinical Trials for MPS I and MPS II Using ZFN-mediated in vivo Genome Editing. 2018; https://www.sangamo.com/application/files/3515/3002/2969/Sangamo_WORLD_2018_CHAMPIONS_Update_Poster_FINAL.pdf

2. Martin R, Beck M, Eng C, Guigliani R, Harmatz P, Munoz V, et al. Recognition and diagnosis of Mucopolysaccharidosis II (hunter syndrome). Pediatrics. 2008;121:e377–85. https://doi.org/10.1542/peds.2007-1350 .

3. Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005;32(4):270–2.

4. Jurecka A, Krumina Z, Żuber Z, Różdżyńska-Świątkowska A, Kłoska A, Czartoryska B, Tylki-Szymańska A. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am J Med Genet A. 2012;158A(2):450–4. https://doi.org/10.1002/ajmg.a.34415 Epub 2012 Jan 13.

5. Sohn YB, Kim SJ, Park SW, Park H, Ki C, Kim C, Huh SW, Yeau S, Paik K, Jin D. A mother and daughter with the p.R443X mutation of Mucopolysaccharidosis type II: genotype and phenotype analysis. Am J Med Genet A. 2010;152A:3129–32.

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