About the authors: The authors, united in the Pompecenter.nl, have worked together for decades in the field of Pompe disease. In 1973 the goal was to investigate whether the Pompe disease phenotypes were caused by mutations in one or in several genes. In 1985, using technology developed by Hasilik and Neufeld, all kind of abnormalities in the synthesis of acid α-glucosidase were brought to light in patients. Authors of this review and others have cloned the GAA gene. They used it to produce recombinant human acid α-glucosidase in CHO cells and in the milk of transgenic rabbits for enzyme replacement therapy: first in genetically modified mice with Pompe disease and later in patients. Maintenance of the Pompe disease mutation database at: www://pompecenter.nl is a core activity that has facilitated the writing of this review.
Article first published online: 17 JAN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Advancements in Pompe Disease
Volume 160C, Issue 1, pages 59–68, 15 February 2012
How to Cite
Kroos, M., Hoogeveen-Westerveld, M., van der Ploeg, A. and Reuser, A. J.J. (2012), The genotype–phenotype correlation in Pompe disease. Am. J. Med. Genet., 160C: 59–68. doi: 10.1002/ajmg.c.31318
How to cite this article: Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJJ. 2012. The genotype–phenotype correlation in Pompe disease. Am J Med Genet Part C Semin Med Genet 160C:59–68.
- Issue published online: 23 JAN 2012
- Article first published online: 17 JAN 2012
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