Allan Meldgaard Lund
Clinical Professor
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MCAD deficiency in Denmark
Andresen, B. S., Lund, Allan Meldgaard, 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 journal › Journal article › Research › peer-review
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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, Allan Meldgaard & Christensen, E., 2012, In: Journal of Inherited Metabolic Disease. 35, 5, p. 787-96 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, Allan Meldgaard, 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
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Arvelige stofskiftesygdomme
Lund, Allan Meldgaard & Skovby, F., 2012, Medicinsk genetik. Nørby, S. & Jensen, P. K. A. (eds.). 2 ed. København: FADL's Forlag, p. 201-218Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
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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, Allan Meldgaard, 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 journal › Journal article › Research › peer-review
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Adherence issues in inherited metabolic disorders treated by low natural protein diets
MaCdonald, A., van Rijn, M., Feillet, F., Lund, Allan Meldgaard, Bernstein, L., Bosch, A. M., Gizewska, M. & van Spronsen, F. J., 2012, In: Annals of Nutrition and Metabolism. 61, 4, p. 289-95 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Karnitintransporterdefekt er en arvelig sygdom med høj hyppighed på Færøerne
Poulsen, S. D., Lund, Allan Meldgaard, 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
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CTD og Færinger i Danmark
Rasmussen, J. & Lund, Allan Meldgaard, 2012, In: Maanedsskrift for Praktisk Laegegerning. 4, AprilResearch output: Contribution to journal › Journal article › Research
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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 others, , 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
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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, Allan Meldgaard, 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 journal › Journal article › Research › peer-review
ID: 33844098
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Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
Research output: Contribution to journal › Journal article › Research › peer-review
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11
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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Research output: Contribution to journal › Journal article › Research › peer-review
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11
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Use of molecular genetic analyses in danish routine newborn screening
Research output: Contribution to journal › Journal article › Research › peer-review
Published