Phenotypical variation within 22 families with Pompe disease

BACKGROUND: Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe disease. We hypothesized that siblings and families with the same genotype share...

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Dettagli Bibliografici
Autori principali: Wens, Stephan C A, van Gelder, Carin M, Kruijshaar, Michelle E, de Vries, Juna M, van der Beek, Nadine A M E, Reuser, Arnold J J, van Doorn, Pieter A, van der Ploeg, Ans T, Brusse, Esther
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2013
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Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3843594/
https://ncbi.nlm.nih.gov/pubmed/24245577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-182
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