Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of...

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Detalles Bibliográficos
Autores principales: Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814921/
https://www.ncbi.nlm.nih.gov/pubmed/29210515
http://dx.doi.org/10.1002/ajmg.a.38551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814921/
https://www.ncbi.nlm.nih.gov/pubmed/29210515
http://dx.doi.org/10.1002/ajmg.a.38551

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