Ellen A.C.M. van Beurden

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

Hans Kristian Ploos van Amstel, A. Bergman, Ellen A.C.M. van Beurden et al. · Human Genetics · 1996 · 60 citations

Mendelian Disorder, Novel Missense, Genetic Disorder +8

Functional interaction between the epidermal growth factor receptor and c‐Src kinase activity

Paschal A. Oude Weernink, Astrid E. Ottenhoff-Kalff, Marijke P. Vendrig et al. · FEBS Letters · 1994 · 35 citations

Extensive changes in liver gene expression induced by Hereditary Tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

Marjanka Luijerink, Saskia M.M. Jacobs, Ellen A.C.M. van Beurden et al. · Journal of Hepatology · 2003 · 35 citations

Hepatology, Liver Physiology, Genetics +9

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

Ellen A.C.M. van Beurden, Michelle de Graaf, U. Wendel et al. · Biochemical and Biophysical Research Communications · 1997 · 27 citations

Hepatology, Genetic Disorder, Genetics +9