M.G.E.M. Ausems

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 · 304 citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 175 citations

Life Sciences, Genetics, Molecular Genetics +16

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four-generation family

M.G.E.M. Ausems, Egbert Bakker, R. Berger et al. · American Journal of Medical Genetics · 1997 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation

O. P. van Diggelen, Jacek Zaremba, He Wang et al. · Clinical Genetics · 1996 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16