Allan Meldgaard Lund

Research output

Research output per year 1998 2011 2012 2012

• 29 Journal article
• 1 Book chapter

Research output per year

Research output per year

Search results

• 2012

  Adherence issues in inherited metabolic disorders treated by low natural protein diets

  MaCdonald, A., van Rijn, M., Feillet, F., Lund, A. M., Bernstein, L., Bosch, A. M., Gizewska, M. & van Spronsen, F. J., Dec 2012, In: Annals of Nutrition and Metabolism. 61, 4, p. 289-95 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Protein-Restricted Diet 100%
  • Inborn Urea Cycle Disorder 39%
  • Amino Acids 35%
  • Inborn Errors Metabolism 32%
  • Phenylketonurias 32%
  34 Citations (Scopus)

• Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

  Coutinho, F., da Silva Santos, L., Lacerda, L., Quental, S., Wibrand, F., Lund, A., Johansen, K. B., Prata, M. J. & Alves, S., 2012, In: JIMD Reports. 4, p. 117-124 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  8 Citations (Scopus)

• Arvelige stofskiftesygdomme

  Lund, A. & Skovby, F., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København: FADL's Forlag, p. 201-218

  Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

• 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., Nov 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 281-93 13 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Greenland 100%
  • Neonatal Screening 77%
  • Denmark 70%
  • Disorder 56%
  • Inborn Errors Metabolism 50%
  44 Citations (Scopus)

• CTD og Færinger i Danmark

  Rasmussen, J. & Lund, A., 2012, In: Maanedsskrift for Praktisk Laegegerning. 4, April

  Research output: Contribution to journal › Journal article › Research

• 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., Dec 2012, In: Molecular Genetics and Metabolism. 107, 4, p. 705-10 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Mucopolysaccharidosis III 100%
  • Mucopolysaccharidosis II 94%
  • Mucopolysaccharidosis I 89%
  • Dermatan Sulfate 87%
  • Disaccharides 81%
  71 Citations (Scopus)

• 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., Sept 2012, In: Journal of Inherited Metabolic Disease. 35, 5, p. 787-96 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Glutaryl-CoA Dehydrogenase 100%
  • Glutaric Acidemia I 89%
  • Neonatal Screening 63%
  • Alleles 39%
  • Enzymes 14%
  5 Citations (Scopus)

• Karnitintransporterdefekt er en arvelig sygdom med høj hyppighed på Færøerne

  Translated title of the contribution: Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe IslandsPoulsen, S. D., Lund, A. M., Christensen, E. & Skovby, F., 2012, In: Ugeskrift for Laeger. 174, 18, p. 1217-9 3 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Systemic carnitine deficiency 100%
  • Denmark 62%
  • Inborn Genetic Diseases 54%
  • Islands 31%
  • Incidence 28%
  9 Citations (Scopus)

• 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., Jun 2012, In: Molecular Genetics and Metabolism. 106, 2, p. 175-88 14 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Medium chain acyl CoA dehydrogenase deficiency 100%
  • Acyl-CoA 77%
  • Denmark 64%
  • Mutation 29%
  • Neonatal Screening 23%
  25 Citations (Scopus)

• Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

  Terhal, P. A., van Dommelen, P., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Kinning, E., Mansour, S., Hennekam, R. C. M., van der Hout, A. H., Cormier-Daire, V., Lund, A. M., Goodwin, L., Mégarbané, A., Lees, M., Betz, R. C., Tobias, E. S., Coucke, P., & 1 othersMortier, G. R., 15 Aug 2012, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. 160C, 3, p. 205-16 12 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Growth Charts 100%
  • Mutation 38%
  • Glycine 35%
  • Cysteine 13%
  • Valine 8%
  20 Citations (Scopus)

• 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

  Borch, L., Lund, A., Wibrand, F., Christensen, E., Søndergaard, C., Gahrn, B., Hougaard, D. M., Andresen, B. S., Gregersen, N. & Olsen, R. K. J., 2012, In: JIMD Reports. 3, p. 11-15 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • acylcarnitine 100%
  • Carnitine 96%
  • Neonatal Screening 83%
  • Denmark 75%
  • Transferases 72%
  5 Citations (Scopus)
• 2011

  Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients

  Hallas, P., Borgwardt, L. G., Roed, J., Lauritsen, T., Dali, C. I. & Lund, A. M., Dec 2011, In: Paediatric Anaesthesia. 21, 12, p. 1269-70 2 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  1 Citation (Scopus)

• Bedre prognose af cystinose ved behandling med cysteamin og nyretransplantation

  Translated title of the contribution: [Improved prognosis of cystinosis achieved by treatment with cysteamine and by kidney transplantation]Oczachowska-Kulik, A. E., Lund, A., Skovby, F. & Pedersen, E. B., Aug 2011, In: Ugeskrift for Laeger. 173, 33, p. 1958-62 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Cystinosis 100%
  • Cysteamine 93%
  • Kidney Transplantation 61%
  • Cystine Depleting Agents 46%
  • Disease Progression 17%

• Forstørret nakkefold kan ses ved osteogenesis imperfecta

  Translated title of the contribution: [Increased nuchal translucency in osteogenesis imperfecta]Schönewolf-Greulich, B., Skibsted, L., Maroun, L. L., Lund, A. M. & Brøndum-Nielsen, K., 28 Mar 2011, In: Ugeskrift for Laeger. 173, 13, p. 973-4 2 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Nuchal Translucency Measurement 100%
  • Osteogenesis Imperfecta 94%
  • Aborted Fetus 52%
  • Pathology 22%
  • Pregnancy 21%
  1 Citation (Scopus)

• Isovalerianeacidæmi--en sjælden og alvorlig defekt i nedbrydningen af leucin

  Translated title of the contribution: [Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine]Lund, A-B. K. & Lund, A., 2011, In: Ugeskrift for Laeger. 173, 15, p. 1121-3 3 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Isovaleric acidemia 100%
  • Leucine 56%
  • Essential Amino Acids 36%
  • Biochemistry 24%
  • Therapeutics 4%

• Kliniske aspekter af Marfans syndrom

  Translated title of the contribution: [Clinical aspects of Marfan syndrome]Belsing, T. Z., Lund, A. M., Søndergaard, L., Friis-Hansen, L. & Abildstrøm, S. Z., Jan 2011, In: Ugeskrift for Laeger. 173, 5, p. 337-42 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Marfan Syndrome 100%
  • Connective Tissue Diseases 46%
  • Angiotensin II 18%
  • Longevity 17%
  • Clinical Trials 12%
  1 Citation (Scopus)

• Molekylærbiologiske aspekter af Marfansyndromer

  Translated title of the contribution: [Molecular biological aspects of Marfan syndromes]Belsing, T. Z., Lund, A. M., Abildstrøm, S. Z., Søndergaard, L. & Friis-Hansen, L., Jan 2011, In: Ugeskrift for Laeger. 173, 5, p. 333-7 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Marfan Syndrome 100%
  • Connective Tissue 36%
  • Fibrillin-1 29%
  • Deficiency Diseases 27%
  • Morphogenesis 19%
  1 Citation (Scopus)

• Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

  Scarpa, M., Almássy, Z., Beck, M., Bodamer, O., Bruce, I. A., De Meirleir, L., Guffon, N., Guillén-Navarro, E., Hensman, P., Jones, S., Kamin, W., Kampmann, C., Lampe, C., Lavery, C. A., Teles, E. L., Link, B., Lund, A. M., Malm, G., Pitz, S., Rothera, M., & 7 othersStewart, C., Tylki-Szymanska, A., van der Ploeg, A., Walker, R., Zeman, J., Wraith, J. E. & Tylki-Szymańska, A., 2011, In: Orphanet Journal of Rare Diseases. 6, p. 72

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Mucopolysaccharidosis II 100%
  • Rare Diseases 64%
  • Iduronate Sulfatase 18%
  • Mucopolysaccharidosis I 15%
  • Deficiency Diseases 15%
  119 Citations (Scopus)
• 2010

  An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

  Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J. M., Adeva Bartolomé, M. T., Aerssens, P., Augoustides-Savvapoulou, P., Baric, I., Baumann, M., Bonafé, L., Chabrol, B., Clarke, J. T. R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M. D., & 31 othersde Klerk, H. B. C., Korman, S. H., Lee, C., Meldgaard Lund, A., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M. L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F. K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D. I., Spreeuwenberg, M. D., Celli, J., den Dunnen, J. T., van der Knaap, M. S. & Salomons, G. S., 1 Apr 2010, In: Human Mutation. 31, 4, p. 380-90 11 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • 2-hydroxyglutarate dehydrogenase 100%
  • 2-Hydroxyglutaricaciduria 45%
  • alpha-hydroxyglutarate 40%
  • Genotype 35%
  • Phenotype 30%
  63 Citations (Scopus)

• Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy

  i Dali, C., Hanson, L. G., Barton, N. W., Fogh, J., Nair, N. & Lund, A. M., 23 Nov 2010, In: Neurology. 75, 21, p. 1896-903 8 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Metachromatic Leukodystrophy 100%
  • N-acetylaspartate 84%
  • Proton Magnetic Resonance Spectroscopy 38%
  • Brain 32%
  • Cognition 25%
  21 Citations (Scopus)

• 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 journal › Journal article › Research › peer-review

  • Physiologic Monitoring 100%
  • Fatty Acids 80%
  • Carnitine 56%
  • Systemic carnitine deficiency 53%
  • acylcarnitine 44%
  21 Citations (Scopus)

• Fiskelugt--det kunne vaere trimethylaminuri

  Translated title of the contribution: [Fish odour--could be a sign of trimethylaminuria]Haugaard, L. K., Lund, A. M., Patursson, P. & Christensen, E., 22 Nov 2010, In: Ugeskrift for Laeger. 172, 47, p. 3268-9 2 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Trimethylaminuria 100%
  • Odorants 57%
  • Fishes 49%
  • 4,6-dinitro-o-cresol 30%
  • Mixed Function Oxygenases 24%

• OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

  Huber, C., Fradin, M., Edouard, T., Le Merrer, M., Alanay, Y., Da Silva, D. B., David, A., Hamamy, H., van Hest, L., Lund, A. M., Michaud, J., Oley, C., Patel, C., Rajab, A., Skidmore, D. L., Stewart, H., Tauber, M., Munnich, A. & Cormier-Daire, V., 1 Jan 2010, In: Human Mutation. 31, 1, p. 20-6 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 100%
  • Mutation 28%
  • Genes 20%
  • Insulin-Like Growth Factor Binding Proteins 19%
  • Fibroblasts 10%
  33 Citations (Scopus)
• 2009

  Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

  Klaus, V., Vermeulen, T., Minassian, B., Israelian, N., Engel, K., Lund, A. M., Roebrock, K., Christensen, E. & Häberle, J., 2009, In: Clinical Genetics. 76, 3, p. 263-9 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Ligases 100%
  • Phenotype 54%
  • Gene Expression 54%
  • Mutation 42%
  • Clone Cells 36%
  21 Citations (Scopus)

• Svaer vitamin B12-mangel hos spaedbørn brysternaeret af veganere

  Translated title of the contribution: Severe vitamin B12 deficiency in infants breastfed by vegansRoed, C., Skovby, F. & Lund, A. M., 2009, In: Ugeskrift for læger. 171, 43, p. 3099-101 2 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  11 Citations (Scopus)
• 2008

  Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

  Pasternack, S. M., Betz, R. C., Brandrup, F., Gade, E. F., Clemmensen, O., Lund, A. M., Christensen, E. & Bygum, A., 2008, In: British Journal of Dermatology. 160, 3, p. 704-6 2 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  11 Citations (Scopus)
• 2007

  Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case report

  Juul, A., Aksglaede, L., Lund, A. M., Duno, M., Skakkebaek, N. E. & Rajpert-De Meyts, E., 2007, In: Human Reproduction. 22, 7, p. 1907-11 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Receptor, Fibroblast Growth Factor, Type 3 100%
  • Fertility 61%
  • Mutation 36%
  • Klinefelter Syndrome 33%
  • Genes 26%
  27 Citations (Scopus)
• 2004

  On the neurotoxicity of glutaric, 3-hydroxyglutaric, and trans-glutaconic acids in glutaric acidemia type 1

  Lund, T. M., Christensen, E., Kristensen, A. S., Schousboe, A. & Lund, A. M., 2004, In: Journal of Neuroscience Research. 77, 1, p. 143-7 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • glutaconic acid 100%
  • Glutaric Acidemia I 80%
  • hydroxide ion 55%
  • N-Methyl-D-Aspartate Receptors 49%
  • Neurotoxins 13%
  24 Citations (Scopus)
• 1998

  Collagen-derived markers of bone metabolism in osteogenesis imperfecta

  Lund, A. M., Hansen, M., Kollerup, G. B., Juul, A., Teisner, B. & Skovby, F., 1998, In: Acta Paediatrica. 87, 11, p. 1131-7 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Osteogenesis Imperfecta 100%
  • Collagen 57%
  • Bone and Bones 44%
  • procollagen type I carboxy terminal peptide 39%
  • pyridinoline 36%
  44 Citations (Scopus)

• Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism

  Lund, A. M., Jensen, B. L., Nielsen, L. A. & Skovby, F., 1998, In: Journal of craniofacial genetics and developmental biology. 18, p. 30-37

  Research output: Contribution to journal › Journal article › Research › peer-review

  55 Citations (Scopus)