Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital

Molecular Genetics and Metabolism, ‎1096-7192

Journal

  1. 2022
  2. Published

    Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

    Tseng, L. A., Abdenur, J. E., Andrews, A., Aziz, V. G., Bok, L. A., Boyer, M., Buhas, D., Hartmann, H., Footitt, E. J., Grønborg, S., Janssen, M. C. H., Longo, N., Lunsing, R. J., MacKenzie, A. E., Wijburg, F. A., Gospe, S. M., Coughlin, C. R. & van Karnebeek, C. D. M., Apr 2022, In: Molecular Genetics and Metabolism. 135, 4, p. 350-356 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2021
  4. Published

    Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus

    Moreno-Martinez, D., Aguiar, P., Auray-Blais, C., Beck, M., Bichet, D. G., Burlina, A., Cole, D., Elliott, P., Feldt-Rasmussen, U., Feriozzi, S., Fletcher, J., Giugliani, R., Jovanovic, A., Kampmann, C., Langeveld, M., Lidove, O., Linhart, A., Mauer, M., Moon, J. C., Muir, A. & 14 others, Nowak, A., Oliveira, J. P., Ortiz, A., Pintos-Morell, G., Politei, J., Rozenfeld, P., Schiffmann, R., Svarstad, E., Talbot, A. S., Thomas, M., Tøndel, C., Warnock, D., West, M. L. & Hughes, D. A., Apr 2021, In: Molecular Genetics and Metabolism. 132, 4, p. 234-243 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2020
  6. Published

    Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study

    Feldt-Rasmussen, U., Hughes, D., Sunder-Plassmann, G., Shankar, S., Nedd, K., Olivotto, I., Ortiz, D., Ohashi, T., Hamazaki, T., Skuban, N., Yu, J., Barth, J. A. & Nicholls, K., 6 Oct 2020, In: Molecular Genetics and Metabolism. 131, 1-2, p. 219-228 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2019
  8. Published

    Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

    Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Lund, A. M., Rizopoulos, D., Kölker, S., Williams, M. & Additional individual contributors from E-IMD, 2019, In: Molecular Genetics and Metabolism. 126, 4, p. 397-405 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

    Guffon, N., Tylki-Szymanska, A., Borgwardt, L., Lund, A. M., Gil-Campos, M., Parini, R. & Hennermann, J. B., 2019, In: Molecular Genetics and Metabolism. 126, 4, p. 470-474 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts

    Germain, D. P., Arad, M., Burlina, A., Elliott, P. M., Falissard, B., Feldt-Rasmussen, U., Hilz, M. J., Hughes, D. A., Ortiz, A., Wanner, C., Weidemann, F. & Spada, M., 2019, In: Molecular Genetics and Metabolism. 126, 3, p. 224-235 12 p.

    Research output: Contribution to journalReviewResearchpeer-review

  11. 2018
  12. Published

    European expert consensus statement on therapeutic goals in Fabry disease

    Wanner, C., Arad, M., Baron, R., Burlina, A., Elliott, P. M., Feldt-Rasmussen, U., Fomin, V. V., Germain, D. P., Hughes, D. A., Jovanovic, A., Kantola, I., Linhart, A., Mignani, R., Monserrat, L., Namdar, M., Nowak, A., Oliveira, J-P., Ortiz, A., Pieroni, M., Spada, M. & 5 others, Tylki-Szymańska, A., Tøndel, C., Viana-Baptista, M., Weidemann, F. & Hilz, M. J., Jul 2018, In: Molecular Genetics and Metabolism. 124, 3, p. 189-203 15 p.

    Research output: Contribution to journalReviewResearchpeer-review

  13. Published

    Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

    Harmatz, P., Cattaneo, F., Ardigò, D., Geraci, S., Hennermann, J. B., Guffon, N., Lund, A., Hendriksz, C. J. & Borgwardt, L., Jun 2018, In: Molecular Genetics and Metabolism. 124, 2, p. 152-160 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse

    Nielsen, T. L., Pinós, T., Brull, A., Vissing, J. & Krag, T. O., 2018, In: Molecular Genetics and Metabolism. 123, 1, p. 21-27 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2017
  16. Published

    Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency

    Preisler, N., Cohen, J., Vissing, C. R., Madsen, K. L., Heinicke, K., Sharp, L. J., Phillips, L., Romain, N., Park, S. Y., Newby, M., Wyrick, P., Mancias, P., Galbo, H., Vissing, J. & Haller, R. G., Nov 2017, In: Molecular Genetics and Metabolism. 122, 3, p. 117-121 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex

    Møller, L. B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L. J., Ostergaard, J. R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K. M., Gregersen, P. A. & Jensen, U. B., Apr 2017, In: Molecular Genetics and Metabolism. 120, 4, p. 384-391 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2015
  19. Published

    The challenges of managing coexistent disorders with phenylketonuria: 30 cases

    MacDonald, A., Ahring, K., Almeida, M. F., Belanger-Quintana, A., Blau, N., Burlina, A., Cleary, M., Coskum, T., Dokoupil, K., Evans, S., Feillet, F., Giżewska, M., Gokmen Ozel, H., Lotz-Havla, A. S., Kamieńska, E., Maillot, F., Lammardo, A. M., Muntau, A. C., Puchwein-Schwepcke, A., Robert, M. & 9 others, Rocha, J. C., Santra, S., Skeath, R., Strączek, K., Trefz, F. K., van Dam, E., van Rijn, M., van Spronsen, F. & Vijay, S., Dec 2015, In: Molecular Genetics and Metabolism. 116, 4, p. 242-51 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

    Aguiar, A., Ahring, K., Almeida, M. F., Assoun, M., Belanger Quintana, A., Bigot, S., Bihet, G., Blom Malmberg, K., Burlina, A., Bushueva, T., Caris, A., Chan, H., Clark, A., Clark, S., Cochrane, B., Corthouts, K., Dalmau, J., Dassy, M., De Meyer, A., Didycz, B. & 61 others, Diels, M., Dokupil, K., Dubois, S., Eftring, K., Ekengren, J., Ellerton, C., Evans, S., Faria, A., Fischer, A., Ford, S., Freisinger, P., Giżewska, M., Gokmen-Ozel, H., Gribben, J., Gunden, F., Heddrich-Ellerbrok, M., Heiber, S., Heidenborg, C., Jankowski, C., Janssen-Regelink, R., Jones, I., Jonkers, C., Joerg-Streller, M., Kaalund-Hansen, K., Kiss, E., Lammardo, A. M., Lang, K., Lier, D., Lilje, R., Lowry, S., Luyten, K., MacDonald, A., Meyer, U., Moor, D., Pal, A., Robert, M., Robertson, L., Rocha, J. C., Rohde, C., Ross, K., Saruhan, S., Sjöqvist, E., Skeath, R., Stoelen, L., Ter Horst, N. M., Terry, A., Timmer, C., Tuncer, N., Vande Kerckhove, K., van der Ploeg, L., van Rijn, M., van Spronsen, F. J., van Teeffelen-Heithoff, A., van Wegberg, A., van Wyk, K., Vasconcelos, C., Vitoria, I., Wildgoose, J., Webster, D., White, F. J. & Zweers, H., May 2015, In: Molecular Genetics and Metabolism. 115, 1, p. 17-22 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2014
  22. Published

    Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up

    Andreassen, C. S., Schlütter, J. M., Vissing, J. & Andersen, H., May 2014, In: Molecular Genetics and Metabolism. 112, 1, p. 40-3 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. 2013
  24. Published

    A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

    Møller, L. B., Rea, G., Yasmeen, S., Skjørringe, T., Thorborg, S. S., Morrison, P. J. & Donnelly, D. E., Dec 2013, In: Molecular Genetics and Metabolism. 110, 4, p. 490-2 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

    Preisler, N., Lukacs, Z., Vinge, L., Madsen, K. L., Husu, E., Hansen, R. S., Duno, M., Andersen, H., Laub, M. S. H. & Vissing, J., Nov 2013, In: Molecular Genetics and Metabolism. 110, 3, p. 287-9 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?

    Preisler, N., Pradel, A., Husu, E., Madsen, K. L., Becquemin, M-H., Mollet, A., Labrune, P., Petit, F., Hogrel, J-Y., Jardel, C., Maillot, F., Vissing, J. & Laforêt, P., May 2013, In: Molecular Genetics and Metabolism. 109, 1, p. 14-20 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Use of sapropterin in the management of phenylketonuria: Seven case reports

    Gokmen Ozel, H., Lammardo, A. M., Motzfeldt, K., Robert, M., Rocha, J. C., van Rijn, M., Ahring, K., Bélanger-Quintana, A., MacDonald, A. N. & Dokoupil, K., 2013, In: Molecular Genetics and Metabolism. 108, 2, p. 109-11 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. 2012
  29. Published

    Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry

    Wilcox, W. R., Linthorst, G. E., Germain, D. P., Feldt-Rasmussen, U., Waldek, S., Richards, S. M., Beitner-Johnson, D., Cizmarik, M., Cole, J. A., Kingma, W. & Warnock, D. G., 2012, In: Molecular Genetics and Metabolism. 105, 3, p. 443-9 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

    Lund, A. M., Hougaard, D. M., Simonsen, H., Andresen, B. S., Christensen, M., Dunø, M., Skogstrand, K., Olsen, R. K. J., Jensen, U. G., Cohen, A., Larsen, N. B., Saugmann-Jensen, P., Gregersen, N., Brandt, N. J., Christensen, E., Skovby, F. & Nørgaard-Pedersen, B., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 281-93 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers

    Belanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A. M., MacDonald, A. N., Motzfeldt, K., Nowacka, M., Robert, M., van Rijn, M. & Ahring, K., 2012, In: Molecular Genetics and Metabolism. 105, 3, p. 390-4 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

    Preisler, N., Laforet, P., Madsen, K. L., Hansen, R. S., Lukacs, Z., Ørngreen, M. C., Lacour, A. & Vissing, J., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 462-8 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

    de Ruijter, J., de Ru, M. H., Wagemans, T., Ijlst, L., Lund, A. M., Orchard, P. J., Schaefer, G. B., Wijburg, F. A. & van Vlies, N., 2012, In: Molecular Genetics and Metabolism. 107, 4, p. 705-10 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    MCAD deficiency in Denmark

    Andresen, B. S., Lund, A. M., Hougaard, D. M., Christensen, E., Gahrn, B., Christensen, M., Bross, P. G., Vested, A., Simonsen, H., Skogstrand, K., Olpin, S., Brandt, N. J., Skovby, F., Nørgaard-Pedersen, B. & Gregersen, N., 2012, In: Molecular Genetics and Metabolism. 106, 2, p. 175-88 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. 2011
  36. Published

    The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes

    Olsson, A. H., Rönn, T., Elgzyri, T., Hansson, O., Eriksson, K. F., Groop, L., Vaag, A., Poulsen, P. & Ling, C., 1 Jul 2011, In: Molecular Genetics and Metabolism. 103, 3, p. 275-281 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    A polymorphism in the angiotensin II type 1 receptor gene has different effects on the risk of diabetic nephropathy in men and women

    Möllsten, A., Vionnet, N., Forsblom, C., Parkkonen, M., Tarnow, L., Hadjadj, S., Marre, M., Parving, H-H. D. & Groop, P-H., May 2011, In: Molecular Genetics and Metabolism. 103, 1, p. 66-70 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

    Feldt-Rasmussen, U., Dobrovolny, R., Nazarenko, I., Ballegaard, M., Hasholt, L. F., Rasmussen, A. K., Christensen, E. I., Sorensen, S. S., Wibrand, F. & Desnick, R. J., 2011, In: Molecular Genetics and Metabolism. 104, 3, p. 314-8 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. 2010
  40. Published

    OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

    Huizing, M., Dorward, H., Ly, L., Klootwijk, E., Kleta, R., Skovby, F., Pei, W., Feldman, B., Gahl, W. A. & Anikster, Y., 1 Jun 2010, In: Molecular Genetics and Metabolism. 100, 2, p. 149-54 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

    Skovby, F., Mudd, S. H. & Gaustadnes, M., 1 Jan 2010, In: Molecular Genetics and Metabolism. 99, 1, p. 1-3 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. 2008
  43. Published

    The PPAR gamma 2 Pro12Ala variant predicts ESRD and mortality in patients with type 1 diabetes and diabetic nephropathy

    Jorsal, A., Tarnow, L., Lajer, M., Ek, J., Hansen, T., Pedersen, O. & Parving, H-H., Jul 2008, In: Molecular Genetics and Metabolism. 94, 3, p. 347-51 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

    Fabry Registry, Feb 2008, In: Molecular Genetics and Metabolism. 93, 2, p. 112-28 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 26685