Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular...

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Detalles Bibliográficos
Autores principales: Ko, Duck Sung, Lee, Sun-Hee, Park, Chan Woo, Lim, Chun Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Reproductive Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6919201/
https://www.ncbi.nlm.nih.gov/pubmed/31813210
http://dx.doi.org/10.5653/cerm.2019.00094

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