Margrethe Kjeldsen

Research output

Research output per year 1994 1994 2010 2015 2023

• 11 Journal article
• 3 Poster

Research output per year

Research output per year

Search results

• 2023

  Differences in the urinary metabolome and proteome between wet and dry nights in children with monosymptomatic nocturnal enuresis and nocturnal polyuria

  Jørgensen, C. S., Kamperis, K., Knudsen, J. H., Kjeldsen, M., Christensen, J. H., Borch, L., Rittig, S. & Palmfeldt, J., Oct 2023, In: Pediatric nephrology (Berlin, Germany). 38, 10, p. 3347-3358 12 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  Open Access

  File

  • Urinary System 100%
  • Polyuria 100%
  • Nocturnal Enuresis 100%
  • Metabolome 100%
  • Metabolite 100%
  3 Citations (Scopus)

  10 Downloads (Pure)
• 2021

  Variants in the Ethylmalonyl-CoA Decarboxylase (ECHDC1) Gene; a Novel Player in Ethylmalonic Aciduria?

  Fogh, S., Dipace, G., Bie, A., Veiga-da-Cunha, M., Hansen, J., Kjeldsen, M., Mosegaard, S., Ribes, A., Gregersen, N., Aagaard, L., Schaftingen, E. V. & Olsen, R. K. J., Sept 2021, In: Journal of Inherited Metabolic Disease. 44, 5, p. 1215-1225 11 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  Open Access

  File

  • Short-Chain Acyl-CoA Dehydrogenase 100%
  • Acyl-CoA 100%
  • Metabolite 100%
  • Carboxy-Lyases 100%
  • Repair Enzyme 50%
  3 Citations (Scopus)

  59 Downloads (Pure)
• 2015

  Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark.

  Joshi, S., Andersen, R. F., Jespersen, B., Rasmussen, M., Madsen, L. B., Hansen, A., Nagaraj, S., Kjeldsen, M., Olsen, R. K. J., Gregersen, N. & Rittig, S., 2015.

  Research output: Contribution to conference › Poster › Research › peer-review

• High-resolution melting analysis to study gene variations in Nephrotic Syndrome.

  Joshi, S., Andersen, R. F., Jespersen, B., Kjeldsen, M., Olsen, R. K. J. & Rittig, S., 2015.

  Research output: Contribution to conference › Poster › Research › peer-review
• 2013

  Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

  Mosegaard, S., Olpin, S., Sharrard, M., Manning, N., Boneh, A., Ryan, K., Andreasen, C., Kjeldsen, M., Gregersen, N. & Olsen, R., 3 Sept 2013.

  Research output: Contribution to conference › Poster › Communication
• 2010

  Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

  Pedersen, C. B., Zolkipli, Z., Vang, S., Palmfeldt, J., Kjeldsen, M., Stenbroen, V., Schmidt, S., Wanders, R. J. A., Ruiter, J. P. N., Wibrand, F., Tein, I. & Gregersen, N., 2010, In: Journal of Inherited Metabolic Disease. 33, 3, p. 211-22 11 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  • Fibroblast 100%
  • Coenzyme A 80%
  • Oxidoreductase 80%
  • Oxidative Stress 60%
  • Dehydrogenase 40%
  36 Citations (Scopus)

• High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene

  Olsen, R. K. J., Dobrowolski, S. F., Kjeldsen, M., Hougaard, D., Simonsen, H., Gregersen, N. & Andresen, B. S., Jun 2010, In: Journal of Inherited Metabolic Disease. 33, 3, p. 247-60 14 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  • Melting Point 100%
  • ACADVL 100%
  • Newborn Screening 100%
  • Tandem Mass Spectrometry 83%
  • Beta Oxidation 50%
  12 Citations (Scopus)

• High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene

  Olsen, R., Dobrowolski, S., Kjeldsen, M., Hougaard, D., Simonsen, H., Gregersen, N. & Andresen, B., 2010, In: Journal of Inherited Metabolic Disease. 33, p. 247-60

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  12 Citations (Scopus)
• 1997

  Structural organization of the human short-chain acyl-CoA dehydrogenase gene

  Corydon, M. J., Andresen, B. S., Bross, P., Kjeldsen, M., Andreasen, P. H., Eiberg, H., Kølvraa, S. & Gregersen, N., Dec 1997, In: Mammalian Genome. 8, 12, p. 922-926 5 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  • Short-Chain Acyl-CoA Dehydrogenase 100%
  • Acyl-CoA 100%
  • Exon 16%
  • Oxidoreductase 16%
  • Genetics 8%
  40 Citations (Scopus)
• 1996

  Allele-specific measurement of low-density lipoprotein receptor transcript levels

  Jensen, L. G., Jensen, H. K., Heath, F., Eiberg, H., Kjeldsen, M., Færgeman, O., Kølvraa, S., Bolund, L. & Gregersen, N., 1996, In: Human Mutation. 8, 2, p. 126-133 8 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  • DNA Sequencer 100%
  12 Citations (Scopus)
• 1995

  Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease

  Jensen, H. K., Hansen, P. S., Jensen, L. G., Kristensen, M. J., Klausen, I. C., Kjeldsen, M., Lemming, L., Bolund, L., Gregersen, N. & Færgeman, O., Jul 1995, In: Clinical Genetics. 48, 1, p. 23-28 6 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

  • Translational Frameshift 100%
  6 Citations (Scopus)
• 1994

  A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene

  Jensen, L. G., Jensen, H. K., Kjeldsen, M., Gerdes, L. U., Hansen, P. S., Faergeman, O., Kolvraa, S., Bolund, L. & Gregersen, N., Jan 1994, In: Clinical Genetics. 45, 1, p. 52-53 2 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
  11 Citations (Scopus)

• A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene

  Jensen, L. G., Jensen, H. K., Kjeldsen, M., Gerdes, L. U., Hansen, P. S., Faergeman, O., Kolvraa, S., Bolund, L. & Gregersen, N., Jan 1994, In: Clinical Genetics. 45, 1, p. 52-53 2 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
  12 Citations (Scopus)

• A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene

  Jensen, H. K., Jensen, L. G., Hansen, P. S., Kjeldsen, M., Gerdes, L. U., Bolund, L., Faergeman, O. & Gregersen, N., Jan 1994, In: Clinical Genetics. 45, 1, p. 54-55 2 p.

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
  2 Citations (Scopus)