The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in combination with a fully deleterious GAA variant on the second allele. The phenotypic spectrum of this patient group is exceptionally broad, with...

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Detaylı Bibliyografya
Yayımlandı:PLoS One
Asıl Yazarlar: Kuperus, Esther, van der Meijden, Jan C., in ’t Groen, Stijn L. M., Kroos, Marian A., Hoogeveen-Westerveld, Marianne, Rizopoulos, Dimitris, Martinez, Monica Yasmin Nino, Kruijshaar, Michelle E., van Doorn, Pieter A., van der Beek, Nadine A. M. E., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2018
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6285976/
https://ncbi.nlm.nih.gov/pubmed/30532252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0208854
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