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Rigshospitalet - a part of Copenhagen University Hospital

Journal of Inherited Metabolic Disease, 0141-8955

Journal

  1. 2021
  2. Published

    Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Kožich, V., Sokolová, J., Morris, A. A. M., Pavlíková, M., Gleich, F., Kölker, S., Krijt, J., Dionisi-Vici, C., Baumgartner, M. R., Blom, H. J., Huemer, M., E-HOD consortium & Lund, A. M., May 2021, In: Journal of Inherited Metabolic Disease. 44, 3, p. 677-692 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2020
  4. Published
  5. Published

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M., Brodtkorb, E., Ostergaard, E., de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., Jul 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 726-736 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study

    Løkken, N., Hansen, K. K., Storgaard, J. H., Ørngreen, M. C., Quinlivan, R. & Vissing, J., Jul 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 778-786 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Rasmussen, J., Dunø, M., Lund, A. M., Steuerwald, U., Hansen, S-H., Joensen, H. D., Køber, L. & Nielsen, O. W., Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 290-296 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2019
  9. Published

    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    EHOD consortium, 12 Mar 2019, In: Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Newborn screening for homocystinurias: recent recommendations versus current practice

    and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), 11 Feb 2019, In: Journal of Inherited Metabolic Disease. 42, 4, p. 128-139 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

    Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Barić, I., Lund, A. M., Kölker, S., Williams, M. & Additional individual contributors from E-IMD, 2019, In: Journal of Inherited Metabolic Disease. 42, 6, p. 1162-1175 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

    Wevers, R. A., Christensen, M., Engelke, U. F. H., Geuer, S., Coene, K. L. M., Kwast, J. T., Lund, A. M. & Vissers, L. E. L. M., 2019, In: Journal of Inherited Metabolic Disease. 42, 3, p. 494-500 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases

    Posset, R., Garbade, S. F., Boy, N., Burlina, A. B., Dionisi-Vici, C., Dobbelaere, D., Garcia-Cazorla, A., de Lonlay, P., Teles, E. L., Vara, R., Ah Mew, N., Batshaw, M. L., Baumgartner, M. R., McCandless, S., Seminara, J., Summar, M., Hoffmann, G. F., Kölker, S., Burgard, P., Lund, A. M. & Additional individual contributors of the UCDC and the E-IMD consortium, 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 96-106 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2018
  15. Published

    Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

    Lund, A. M., Borgwardt, L., Cattaneo, F., Ardigò, D., Geraci, S., Gil-Campos, M., De Meirleir, L., Laroche, C., Dolhem, P., Cole, D., Tylki-Szymanska, A., Lopez-Rodriguez, M., Guillén-Navarro, E., Dali, C. I., Héron, B., Fogh, J., Muschol, N., Phillips, D., Van den Hout, J. M. H., Jones, S. A., Amraoui, Y., Harmatz, P. & Guffon, N., Nov 2018, In: Journal of Inherited Metabolic Disease. 41, 6, p. 1225-1233 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

    Borgwardt, L., Guffon, N., Amraoui, Y., Dali, C. I., De Meirleir, L., Gil-Campos, M., Heron, B., Geraci, S., Ardigò, D., Cattaneo, F., Fogh, J., Van den Hout, J. M. H., Beck, M., Jones, S. A., Tylki-Szymanska, A., Haugsted, U. & Lund, A. M., Nov 2018, In: Journal of Inherited Metabolic Disease. 41, 6, p. 1215-1223 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Leão Teles, E., Dionisi-Vici, C., Brassier, A., Burlina, A. B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M. L., Sykut-Cegielska, J., Häberle, J., Lund, A. M., Chakrapani, A., Schiff, M., Walter, J. H., Zeman, J., Vara, R., Kölker, S. & additional individual contributors of the E-IMD consortium, Jul 2018, In: Journal of Inherited Metabolic Disease. 41, 4, p. 743-744 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2017
  19. Published

    Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias

    Heringer, J., Valayannopoulos, V., Lund, A. M., Wijburg, F. A., Freisinger, P., Barić, I., Baumgartner, M. R., Burgard, P., Burlina, A. B., Chapman, K. A., Cortès I Saladelafont, E., Karall, D., Mühlhausen, C., Riches, V., Schiff, M., Sykut-Cegielska, J., Walter, J. H., Zeman, J., Chabrol, B., Kölker, S. & Additional individual contributors of the E-IMD consortium, 12 Dec 2017, In: Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

    Pronicka, E., Ropacka-Lesiak, M., Trubicka, J., Pajdowska, M., Linke, M., Ostergaard, E., Saunders, C., Horsch, S., van Karnebeek, C., Yaplito-Lee, J., Distelmaier, F., Õunap, K., Rahman, S., Castelle, M., Kelleher, J., Baris, S., Iwanicka-Pronicka, K., Steward, C. G., Ciara, E., Wortmann, S. B. & Additional individual contributors, Nov 2017, In: Journal of Inherited Metabolic Disease. 40, 6, p. 853-860 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2016
  22. Published

    Impact of age at onset and newborn screening on outcome in organic acidurias

    Heringer, J., Valayannopoulos, V., Lund, A. M., Wijburg, F. A., Freisinger, P., Barić, I., Baumgartner, M. R., Burgard, P., Burlina, A. B., Chapman, K. A., I Saladelafont, E. C., Karall, D., Mühlhausen, C., Riches, V., Schiff, M., Sykut-Cegielska, J., Walter, J. H., Zeman, J., Chabrol, B., Kölker, S. & additional individual contributors of the E-IMD consortium, 2016, In: Journal of Inherited Metabolic Disease. 39, 3, p. 341-53

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M., Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Ostergaard, E., 2016, In: Journal of Inherited Metabolic Disease. 39, 2, p. 243-52

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2015
  25. Published

    Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis

    Borgwardt, L. G., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I. & Lund, A., Nov 2015, In: Journal of Inherited Metabolic Disease. 38, 6, p. 1119-27 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E. C., Couce, M. L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H. O., Ortez, C., Peña-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M. & Burgard, P., Nov 2015, In: Journal of Inherited Metabolic Disease. 38, 6, p. 1041-57 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P. N., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., Chapman, K., Cortès I Saladelafont, E., Couce, M. L., de Meirleir, L., Dobbelaere, D., Furlan, F., Gleich, F., González, M. J., Gradowska, W., Grünewald, S., Honzik, T., Hörster, F., Ioannou, H., Jalan, A., Häberle, J., Haege, G., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., Murphy, E., de Baulny, H. O., Ortez, C., Pedrón, C. C., Pintos-Morell, G., Pena-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., Lund, A. M. & Garcia Cazorla, A., Nov 2015, In: Journal of Inherited Metabolic Disease. 38, 6, p. 1059-74 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

    Olsen, R. K. J., Cornelius, N. & Gregersen, N., Jul 2015, In: Journal of Inherited Metabolic Disease. 38, 4, p. 703-19 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Exercise in muscle glycogen storage diseases

    Preisler, N., Haller, R. G. & Vissing, J., 2015, In: Journal of Inherited Metabolic Disease. p. 551-563

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    No effect of bezafibrate in patients with CPTII and VLCAD deficiencies

    Orngreen, M. C., Vissing, J. & Laforét, P., 2015, In: Journal of Inherited Metabolic Disease. 38, p. 373-74

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. 2014
  32. Published

    Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

    Rasmussen, J., Wendelboe Nielsen, O., Janzen, N., Duno, M., Køber, L., Steuerwald, U. & Lund, A. M., Mar 2014, In: Journal of Inherited Metabolic Disease. 37, 2, p. 215-222 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening

    Rasmussen, J., Køber, L., Lund, A. M. & Wendelboe Nielsen, O., Mar 2014, In: Journal of Inherited Metabolic Disease. 37, 2, p. 223-230 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 2013
  35. Published

    3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients

    Wortmann, S. B., Kluijtmans, L. A. J., Rodenburg, R. J., Sass, J. O., Nouws, J., van Kaauwen, E. P., Kleefstra, T., Tranebjaerg, L., de Vries, M. C., Isohanni, P., Walter, K., Alkuraya, F. S., Smuts, I., Reinecke, C. J., van der Westhuizen, F. H., Thorburn, D., Smeitink, J. A. M., Morava, E. & Wevers, R. A., Nov 2013, In: Journal of Inherited Metabolic Disease. 36, 6, p. 913-21 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

    Borgwardt, L. G., Dali, C. I., Fogh, J., Månsson, J., Olsen, K. J., Beck, H., Nielsen, K. G., Nielsen, L. H., Olsen, S. O. E., Riise Stensland, H. M. F., Nilssen, O., Wibrand, F., Thuesen, A-M., Pearl, T., Haugsted, U., Saftig, P., Blanz, J., Jones, S., Tylki-Szymanska, A., Guffon-Fouiloux, N., Beck, M. V. & Lund, A. M., Nov 2013, In: Journal of Inherited Metabolic Disease. 36, 6, p. 1015-24 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

    Rasmussen, J., Wendelboe Nielsen, O., Lund, A. M., Køber, L. & Djurhuus, H., Jan 2013, In: Journal of Inherited Metabolic Disease. 36, 1, p. 35-41 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 2012
  39. Published

    Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

    Bross, P. G., Frederiksen, J. B., Bie, A. S., Hansen, J., Palmfeldt, J., Nielsen, M. N., Duno, M., Lund, A. M. & Christensen, E., 2012, In: Journal of Inherited Metabolic Disease. 35, 5, p. 787-96 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

    Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J. & Smeitink, J. A. M., 2012, In: Journal of Inherited Metabolic Disease. 35, 5, p. 737-47 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. 2011
  42. Published

    Diagnosis and management of glutaric aciduria type I--revised recommendations

    Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Boneh, A., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., García Cazorla, A., Goodman, S. I., Koeller, D. M., Kyllerman, M., Mühlhausen, C., Müller, E., Okun, J. G., Wilcken, B., Hoffmann, G. F. & Burgard, P., 2011, In: Journal of Inherited Metabolic Disease. 34, 3, p. 677-94 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

    Al-Dirbashi, O. Y., Kölker, S., Ng, D., Fisher, L., Rupar, T., Lepage, N., Rashed, M. S., Santa, T., Goodman, S. I., Geraghty, M. T., Zschocke, J., Christensen, E., Hoffmann, G. F. & Chakraborty, P., 2011, In: Journal of Inherited Metabolic Disease. 34, 1, p. 173-80 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. 2010
  45. Published

    Large neutral amino acids in daily practice

    Ahring, K. K., Dec 2010, In: Journal of Inherited Metabolic Disease. 33 Suppl 3, p. S187-90

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

    Lund, A. M., Skovby, F., Vestergaard, H., Christensen, M. & Christensen, E., 1 Oct 2010, In: Journal of Inherited Metabolic Disease. 33, 5, p. 495-500 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

    Pedersen, C. B., Zolkipli, Z., Vang, S., Palmfeldt, J., Kjeldsen, M., Stenbroen, V., Schmidt, S. P., Wanders, R. J. A., Ruiter, J. P. N., Wibrand, F., Tein, I. & Gregersen, N., 1 Jun 2010, In: Journal of Inherited Metabolic Disease. 33, 3, p. 211-22 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 45799