Article
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Molecular genetics and metabolism - 1 Nov 2012
Wens Stephan C A, Kroos Marian A, de Vries Juna M, Hoogeveen-Westerveld Marianne, Wijgerde Mark G J M, van Doorn Pieter A, van der Ploeg Ans T, Reuser Arnold J J
Abstract excerpt
INTRODUCTION: Most adults with Pompe disease are compound heterozygotes in which one acid α-glucosidase (GAA) allele harbors the c.-32-13T>G mutation, causing partial loss of GAA, and the other allele harbors a fully deleterious mutation. The fibroblast GAA activity in these patients is usually between 5% and 25% of the average in healthy individuals. In some adult patients, however, the fibroblast GAA activity...
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