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Human Mutation|January 1, 1997
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotypeM A Kroos, M Van der Kraan, O P Van Diggelen, et al.The EMBO Journal|June 1, 1988
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complexL H Hoefsloot, M Hoogeveen-Westerveld, M A Kroos, et al.Human Molecular Genetics|December 14, 2001
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complexM Nellist, B Verhaaf, M A Goedbloed, et al.Biochemical and Biophysical Research Communications|September 16, 1991
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type IIM M Hermans, E de Graaff, M A Kroos, et al.Physiological Genomics|May 1, 2001
Cardiac remodeling and contractile function in acid alpha-glucosidase knockout miceJ H Kamphoven, R Stubenitsky, A J Reuser, et al.Pediatric Research|July 1, 1988
Receptor-mediated uptake of acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscleA T Van der Ploeg, M C Loonen, P A Bolhuis, et al.Biochimica Et Biophysica Acta|January 30, 1987
Determination of the structure of the carbohydrate chains of acid alpha-glucosidase from human placentaJ H Mutsaers, H Van Halbeek, J F Vliegenthart, et al.Gene|January 4, 2014
Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe diseaseM I Nilsson, M A Kroos, A J Reuser, et al.Annals of Human Genetics|May 1, 1989
An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 alleleD M Swallow, M Kroos, A T Van der Ploeg, et al.Neurology|March 17, 1999
A diagnostic protocol for adult-onset glycogen storage disease type IIM G Ausems, P Lochman, O P van Diggelen, et al.Pageof 10