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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書目詳細資料
發表在:Am J Med Genet A
Main Authors: Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2017
主題:
Original Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5814921/
https://ncbi.nlm.nih.gov/pubmed/29210515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38551
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