Showing results (1-10 of 608) with videos related to
Sort By:
Pageof 61
European Journal of Pediatrics|February 7, 1998
Methionine synthase deficiency without megaloblastic anaemiaE A Kvittingen, S Spangen, J Lindemans, et al.Scandinavian Journal of Clinical and Laboratory Investigation. Supplementum|January 1, 1986
Hereditary tyrosinemia type I--an overviewE A KvittingenJournal of Inherited Metabolic Disease|January 1, 1995
Tyrosinaemia--treatment and outcomeE A KvittingenJournal of Inherited Metabolic Disease|January 14, 1998
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)B Fowler, R B Schutgens, D S Rosenblatt, et al.Scandinavian Journal of Clinical and Laboratory Investigation. Supplementum|January 1, 1986
The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetaseE A Kvittingen, E BrodtkorbAmerican Journal of Human Genetics|December 1, 1994
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type IH Rootwelt, E Brodtkorb, E A KvittingenPediatric Research|July 1, 1983
Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemiaE A Kvittingen, S Halvorsen, E JellumBiomedical & Environmental Mass Spectrometry|October 1, 1988
Mass spectrometry in diagnosis of metabolic disordersE Jellum, E A Kvittingen, O StokkeClinica Chimica Acta; International Journal of Clinical Chemistry|September 1, 1981
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemiaE A Kvittingen, E Jellum, O StokkePageof 61