A. J. J. Reuser

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

M.G.E.M. Ausems, J. R. Verbiest, MMP Hermans et al. · European Journal of Human Genetics · 1999 · 302 citations · Full text

Genetic Testing, Mendelian Disorder, Inherited Metabolic Disease +9

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

Marian A. Kroos, Robert J. Pomponio, M.L.C. Hagemans et al. · Neurology · 2007 · 168 citations

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer et al. · Molecular Genetics and Metabolism · 2007 · 155 citations

Medical Diagnostics, Pompe Disease, International Consensus Meeting +10

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

A. G. A. Bijvoet, Esther H. M. van de Kamp, Marian A. Kroos et al. · Human Molecular Genetics · 1998 · 139 citations · Full text

Late-onset Pompe disease primarily affects quality of life in physical health domains

M.L.C. Hagemans, A. Cecile J.W. Janssens, Léon P. F. Winkel et al. · Neurology · 2004 · 111 citations

Quality Of Life, Life Assessment, Disease Progression +21