Rikke Katrine Jentoft Olsen

Summary

Affiliation: Aarhus University Hospital
Country: Denmark

Publications

  1. ncbi Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Hum Mutat 22:12-23. 2003
  2. ncbi ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Brain 130:2045-54. 2007
  3. ncbi High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene
    Rikke Katrine Jentoft Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej, Aarhus N, Denmark
    J Inherit Metab Dis 33:247-60. 2010
  4. ncbi Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
  5. ncbi Disease mechanisms and protein structures in fatty acid oxidation defects
    Niels Gregersen
    Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University and Aarhus University Hospital, Skejby, Aarhus, Denmark
    J Inherit Metab Dis 33:547-53. 2010
  6. ncbi DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Prenat Diagn 25:60-4. 2005
  7. ncbi Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
    Luise Borch
    Paediatric Department, Aarhus University Hospital Skejby, Aarhus, Denmark
    JIMD Rep 3:11-5. 2012
  8. ncbi Electron transfer flavoprotein deficiency: functional and molecular aspects
    Manuel Schiff
    Centre de référence Maladies Héréditaires du Métabolisme, Service de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    Mol Genet Metab 88:153-8. 2006

Detail Information

Publications8

  1. ncbi Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Hum Mutat 22:12-23. 2003
    ....
  2. ncbi ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Brain 130:2045-54. 2007
    ..This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder...
  3. ncbi High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene
    Rikke Katrine Jentoft Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej, Aarhus N, Denmark
    J Inherit Metab Dis 33:247-60. 2010
    ..Based on estimates of the expected disease incidence, we discuss the diagnostic accuracy of MS/MS-based newborn screening to identify VLCADD in Denmark...
  4. ncbi Mitochondrial fatty acid oxidation defects--remaining challenges
    Niels Gregersen
    Research Unit for Molecular Medicine, Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University, Aarhus N, Denmark
    J Inherit Metab Dis 31:643-57. 2008
    ..With SCAD deficiency, the challenge is to elucidate whether ACADS gene variations are disease-associated, especially when combined with other genetic/cellular/environmental factors, which may act synergistically...
  5. ncbi Disease mechanisms and protein structures in fatty acid oxidation defects
    Niels Gregersen
    Institute of Clinical Medicine, The Faculty of Health Sciences, Aarhus University and Aarhus University Hospital, Skejby, Aarhus, Denmark
    J Inherit Metab Dis 33:547-53. 2010
    ....
  6. ncbi DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency
    Rikke K J Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark
    Prenat Diagn 25:60-4. 2005
    ..We report here on an alternative DNA-based approach for prenatal diagnosis in pregnancies at risk of MADD...
  7. ncbi Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
    Luise Borch
    Paediatric Department, Aarhus University Hospital Skejby, Aarhus, Denmark
    JIMD Rep 3:11-5. 2012
    ..We conclude that CPT1A gene testing and/or enzyme assay is mandatory to confirm an abnormal newborn screen suggesting CPT1A deficiency to avoid delayed diagnoses...
  8. ncbi Electron transfer flavoprotein deficiency: functional and molecular aspects
    Manuel Schiff
    Centre de référence Maladies Héréditaires du Métabolisme, Service de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    Mol Genet Metab 88:153-8. 2006
    ..The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene. Nine novel disease-causing ETF mutations are reported...