Depletion of mitochondrial DNA copies/cell in peripheral blood mononuclear cells in HIV‐1‐infected treatment‐naïve patients von Maagaard, A, Holberg‐Petersen, M, Kvittingen, EA, Sandvik, L, Bruun, JN

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Self-induced correction of the genetic defect in tyrosinemia type I von Kvittingen, E A, Rootwelt, H, Berger, R, Brandtzaeg, P

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Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene von BURWINKEL, Barbara, ROOTWELT, Terje, KVITTINGEN, Eli. Anne, CHAKRABORTY, Pranesh K, KILIMANN, Manfred W

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Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect von Bliksrud, Y T, Brodtkorb, E, Andresen, P A, van den Berg, I E T, Kvittingen, E A

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Hereditary tyrosinemia type I : self-induced correction of the fumarylacetoacetase defect von KVITTINGEN, E. A, ROOTWELT, H, BRANDTZAEG, P, BERGAN, A, BERGER, R

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Evidence That Alpers-Huttenlocher Syndrome Could Be a Mitochondrial Disease von Rasmussen, Magnhild, Sanengen, Truls, Skullerud, Kari, Kvittingen, Eli Anne, Skjeldal, Ola H.

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Acute respiratory distress syndrome in long‐chain 3‐hydroxyacyl‐CoA dehydrogenase and mitochondrial trifunctional protein deficiencies von Lundy, C. T., Shield, J. P. H., Kvittingen, E. A., Vinorum, O. J., Trimble, E. R., Morris, A. A. M.

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Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I von ROOTWELT, H, BRODTKORB, E, KVITTINGEN, E. A

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Fumarylacetoacetase mutations in tyrosinaemia type I von Rootwelt, Helge, Høie, Kari, Berger, Ruud, Kvittingen, Eli Anne

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Methionine synthase deficiency without megaloblastic anaemia von KVITFINGEN, E. A, SPANGEN, S, LINDEMANS, J, FOWLER, B

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Tyrosinemia type 1 : complex splicing defects and a missense mutation in the fumarylacetoacetase gene von ROOTWELT, H, KRISTENSEN, T, BERGER, R, HØIE, K, KVITTINGEN, E. A

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Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type I von ROOTWELT, H, BERGER, R, GRAY, G, KELLY, D. A, COSKUN, T, KVITTINGEN, E. A

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DNA‐based prenatal diagnosis for very‐long‐ chain acyl‐CoA dehydrogenase deficiency von 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.

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Hereditary tyrosinemia type 1 : novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene ; variability of the genotype-phenotype rela... von PLOOS VAN AMSTEL, J. K, BERGMAN, A. J. I. W, VAN BEURDEN, E. A. C. M, ROIJERS, J. F. M, PEELEN, T, VAN DEN BERG, I. E. T, POOL-THE, B. T, KVITTIGEN, E. A, BERGER, R

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Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis von SKREDE, S, BJORKHEM, I, KVITTINGEN, E. A, BUCHMANN, M. S, LIE, S. O, EAST, C, GRUNDY, S

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Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1 von Hahn, Si Houn, Krasnewich, Donna, Brantly, Mark, Kvittingen, Eli Anne, Gahl, William A.

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Hereditary tyrosinemia type I: Lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein von KVITTINGEN, E. A, ROOTWELT, H, VAN DAM, T, VAN FAASSEN, H, BERGER, R

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N-Acetylaspartic aciduria in a child with a progressive cerebral atrophy von Kvittingen, E.A., Guldal, G., Børsting, S., Skalpe, I.O., Stokke, O., Jellum, E.

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Genetic services in Norway von Tranebjaerg, L, Børresen-Dale, A L, Hansteen, I L, Heim, S, Kvittingen, E A, Møller, P

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Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia von Kvittingen, E A, Halvorsen, S, Jellum, E

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