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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2018
Pynciau:
Research Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg