Else Brodtkorb

Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect

Yngve Thomas Bliksrud, Else Brodtkorb, Per Arne Andresen et al. · Journal of Molecular Medicine · 2005 · 30 citations

Life Sciences, Genetics, Molecular Genetics +14

The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.

Kvittingen Ea, Else Brodtkorb · PubMed · 1986 · 30 citations

Life Sciences, Biochemistry, Genetics +14

Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene

Yngve Thomas Bliksrud, Else Brodtkorb, Paul Hoff Backe et al. · Scandinavian Journal of Clinical and Laboratory Investigation · 2012 · 24 citations

Life Sciences, Genetics, Molecular Genetics +11

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

Helge Rootwelt, Janice Y. Chou, William A. Gahl et al. · Human Genetics · 1994 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

Paul Hoff Backe, Mari Ytre‐Arne, Åsmund K. Røhr et al. · JIMD Reports · 2013 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17