Hereditary tyrosinemia type I : self-induced correction of the fumarylacetoacetase defect
KVITTINGEN, E. A, ROOTWELT, H, BRANDTZAEG, P, BERGAN, A, BERGER, R
Published in The Journal of clinical investigation (01.04.1993)
Published in The Journal of clinical investigation (01.04.1993)
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HIV dementia and apolipoprotein E
Dunlop, O., Goplen, A. K., Liestol, K., Myrvang, B., Rootwelt, H., Christophersen, B., Kvittingen, E-A., Maehlen, J.
Published in Acta neurologica Scandinavica (01.05.1997)
Published in Acta neurologica Scandinavica (01.05.1997)
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Acute respiratory distress syndrome in long‐chain 3‐hydroxyacyl‐CoA dehydrogenase and mitochondrial trifunctional protein deficiencies
Lundy, C. T., Shield, J. P. H., Kvittingen, E. A., Vinorum, O. J., Trimble, E. R., Morris, A. A. M.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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DNA‐based prenatal diagnosis for very‐long‐ chain acyl‐CoA dehydrogenase deficiency
Andresen, B. S., Olpin, S., Kvittingen, E. A., Augoustides‐Savvopoulou, P., Lindhout, D., Halley, D. J. J., Vianey‐Saban, C., Wanders, R. J. A., IJlst, L., Schroeder, L. D., Bolund, L., Gregersen, N.
Published in Journal of inherited metabolic disease (01.05.1999)
Published in Journal of inherited metabolic disease (01.05.1999)
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Methionine synthase deficiency without megaloblastic anaemia
KVITFINGEN, E. A, SPANGEN, S, LINDEMANS, J, FOWLER, B
Published in European journal of pediatrics (01.12.1997)
Published in European journal of pediatrics (01.12.1997)
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Journal Article
Hereditary tyrosinemia type I--an overview
Kvittingen, E A
Published in Scandinavian journal of clinical & laboratory investigation. Supplement (1986)
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Published in Scandinavian journal of clinical & laboratory investigation. Supplement (1986)
Journal Article
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship
Ploos van Amstel, J K, Bergman, A J, van Beurden, E A, Roijers, J F, Peelen, T, van den Berg, I E, Poll-The, B T, Kvittingen, E A, Berger, R
Published in Human genetics (01.01.1996)
Published in Human genetics (01.01.1996)
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Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis
SKREDE, S, BJORKHEM, I, KVITTINGEN, E. A, BUCHMANN, M. S, LIE, S. O, EAST, C, GRUNDY, S
Published in The Journal of clinical investigation (01.09.1986)
Published in The Journal of clinical investigation (01.09.1986)
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Journal Article
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene
Rootwelt, H, Kristensen, T, Berger, R, Høie, K, Kvittingen, E A
Published in Human genetics (01.09.1994)
Published in Human genetics (01.09.1994)
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N-Acetylaspartic aciduria in a child with a progressive cerebral atrophy
Kvittingen, E.A., Guldal, G., Børsting, S., Skalpe, I.O., Stokke, O., Jellum, E.
Published in Clinica chimica acta (15.08.1986)
Published in Clinica chimica acta (15.08.1986)
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Journal Article
Self-induced correction of the genetic defect in tyrosinemia type I
Kvittingen, E A, Rootwelt, H, Berger, R, Brandtzaeg, P
Published in The Journal of clinical investigation (01.10.1994)
Published in The Journal of clinical investigation (01.10.1994)
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Journal Article
First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination
Jakobs, C, Stellaard, F, Kvittingen, E A, Henderson, M, Lilford, R
Published in Prenatal diagnosis (01.02.1990)
Published in Prenatal diagnosis (01.02.1990)
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Journal Article
Renal failure in adult patients with hereditary tyrosinaemia type I
Kvittingen, E A, Talseth, T, Halvorsen, S, Jakobs, C, Hovig, T, Flatmark, A
Published in Journal of inherited metabolic disease (1991)
Published in Journal of inherited metabolic disease (1991)
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