E. A. Kvittingen - Concepedia

Author

E. A. Kvittingen

Also Known As

E A Kvittingen, E. A. KVITTINGEN, E. A. Kvittingen, E.A Kvittingen, E.A. Kvittingen, Eli-Anne Kvittingen, EliAnne Kvittingen, Eli‐Anne Kvittingen

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

University of Oslo Oslo University Hospital Wilhelmina Children's Hospital Karolinska Institutet

About

E. A. Kvittingen is an author at University of Oslo specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	17	1K
2	Biochemistry	7	7	415
3	Health Sciences	2	2	163
4	Natural Sciences	1	1	86
5	Cell Biology	1	1	65

E. A. Kvittingen

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Self-induced correction of the genetic defect in tyrosinemia type I. E. A. Kvittingen, Helge Rootwelt, Ruud Berger, Journal of Clinical Investigation Tyrosinemia TypeGeneticsMosaic PatternImmunologyPathology	1994	169
Hereditary tyrosinemia type I--an overview. E. A. Kvittingen PubMed Aldo-keto ReductaseGeneticsGenetic EpidemiologyPathologyCirrhosis	1986	108
Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis. Steinar Skrede, Ingemar Björkhem, E. A. Kvittingen, Journal of Clinical Investigation FibrosisHealthy IndividualsHepatologyOxysterolMedicine	1986	106
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. E. A. Kvittingen, Helge Rootwelt, P Brandtzæg, Journal of Clinical Investigation Chronic Tyrosinemia TypeHepatologyBiochemistryFumarylacetoacetase DefectNorwegian Patients	1993	103
Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. Marie S. Buchmann, E. A. Kvittingen, Hisham M. Nazer, Journal of Clinical Investigation Bile Acid BiosynthesisBioanalysisApparent KmHepatotoxicityNew Inborn Error	1990	86
N-Acetylaspartic aciduria in a child with a progressive cerebral atrophy E. A. Kvittingen, Gro Guldal, Sigurd Børsting, Clinica Chimica Acta Inherited Metabolic DiseasePediatricsNeurologyNeuropathologyMedicine	1986	72
Deficient Fumarylacetoacetate Fumarylhydrolase Activity in Lymphocytes and Fibroblasts from Patients with Hereditary Tyrosinemia E. A. Kvittingen, S Halvorsen, Egil Jellum Pediatric Research Hereditary TyrosinemiaAutoimmune DiseaseInherited Metabolic DiseaseHematologyImmunology	1983	65
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, Human Genetics Mendelian DisorderNovel MissenseGenetic DisorderGeneticsMolecular Biology	1996	60
Assay of fumarylacetoacetate fumarylhydrolase in human liver — deficient activity in a case of hereditary tyrosinemia E. A. Kvittingen, Egil Jellum, Oddvar Stokke Clinica Chimica Acta Hereditary TyrosinemiaFumarylacetoacetate FumarylhydrolaseHepatologyBiochemistryLiver Physiology	1981	55
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report David Cassiman, Renate Zeevaert, Elisabeth Holme, Orphanet Journal of Rare Diseases	2009	38

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