Article
Phenotypical variation within 22 families with Pompe disease.
Orphanet journal of rare diseases - 19 Nov 2013
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
Abstract excerpt
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 more similar phenotypes than the total population of non-classic Pompe patients, and that this might reveal...
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