Allan Meldgaard Lund

Research output

Research output per year 1998 2010 2011 2012 2022 2023 2024

• 1046 Citations
• 50 Journal article
• 2 Book chapter
• 2 Review
• 1 Comment/debate

Research output per year

Research output per year

Search results

• 2024

  Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

  Aldrian, D., Waldner, B., Vogel, G. F., El-Gharbawy, A. H., McKiernan, P., Vockley, J., Landau, Y. E., Al Mutairi, F., Stepien, K. M., Kwok, A. M. K., Yıldız, Y., Honzik, T., Kelifova, S., Ellaway, C., Lund, A. M., Mori, M., Grünert, S. C., Scholl-Bürgi, S., Zöggeler, T., Oberhuber, R. & 3 others, Schneeberger, S., Müller, T. & Karall, D., 2024, In: Journal of Inherited Metabolic Disease. 47, 2, p. 220-229 10 p.

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

  Open Access

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  3 Downloads (Pure)

• Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay

  Lund, A. M., Berland, S., Tangeraas, T., Christensen, M., Confer, N., Squires, L. & Brannsether, B., 2024, In: Pediatrics. 153, 6, 7 p., e2023062548.

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

• Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

  Guffon, N., Burton, B. K., Ficicioglu, C., Magner, M., Gil-Campos, M., Lopez-Rodriguez, M. A., Jayakar, P., Lund, A. M., Tal, G., Garcia-Ortiz, J. E., Stepien, K. M., Ellaway, C., Al-Hertani, W., Giugliani, R., Cathey, S. S., Hennermann, J. B., Lampe, C., McNutt, M., Lagler, F. B., Scarpa, M. & 2 others, Sutton, V. R. & Muschol, N., 2024, In: Molecular Genetics and Metabolism. 142, 4, 14 p., 108519.

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

  Open Access

  File
  2 Downloads (Pure)
• 2023

  Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics

  Erbs, E., Brasen, C. L., Lund, A. M. & Rasmussen, M., 2023, In: European Journal of Medical Genetics. 66, 3, 6 p., 104698.

  Research output: Contribution to journal › Journal article › Research › peer-review
  4 Citations (Scopus)

• High yield on aetiology using a systematic diagnostic approach to paediatric acute liver failure, analysis of a nationwide cohort

  Nordmann Winther, T., Nielsen, A. Y., Lund, A., Larsen, F. S. & Jørgensen, M. H., 2023, In: Acta Paediatrica, International Journal of Paediatrics. 112, 5, p. 1082-1090 9 p.

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

  Open Access

  File
  1 Citation (Scopus)

  8 Downloads (Pure)

• Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium

  Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y. H., Cortès-Saladelafont, E., De Laet, C., Dobbelaere, D., Eysken, F., Gautschi, M., Santer, R., Häberle, J., Joaquín, C., Karall, D., Lindner, M., Lund, A. M., Mühlhausen, C., Murphy, E. & 8 others, Roland, D., Ruiz Gomez, A., Skouma, A., Grünert, S. C., Wagenmakers, M., Garbade, S. F., Kölker, S. & Boy, N., 2023, In: Journal of Inherited Metabolic Disease. 46, 2, p. 220-231

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

  Open Access

  File
  6 Citations (Scopus)

  9 Downloads (Pure)

• Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study

  Guffon, N., Konstantopoulou, V., Hennermann, J. B., Muschol, N., Bruno, I., Tummolo, A., Ceravolo, F., Zardi, G., Ballabeni, A. & Lund, A., 2023, In: Journal of Inherited Metabolic Disease. 46, 4, p. 705-719 15 p.

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

  Open Access

  File
  6 Citations (Scopus)

  13 Downloads (Pure)

• Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

  Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt Ii, J., Pérez, B., Ugarte, M. & 11 others, Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 2023, In: Human Molecular Genetics. 32, 6, p. 917-933 17 p.

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

  Open Access

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  6 Citations (Scopus)

  3 Downloads (Pure)

• The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria

  Nielsen, M. R., Jørgensen, C., Ahring, K., Lund, A. M. & Ørngreen, M. C., 2023, In: Journal of Inherited Metabolic Disease. 46, 4, p. 586-594 9 p.

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

  Open Access

  File
  3 Citations (Scopus)

  11 Downloads (Pure)

• X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease

  Mejdahl Nielsen, M., Petersen, E. T., Fenger, C. D., Ørngreen, M. C., Siebner, H. R., Boer, V. O., Považan, M., Lund, A., Grønborg, S. W. & Hammer, T. B., 2023, In: Molecular Genetics and Metabolism. 140, 3, 9 p., 107694.

  Research output: Contribution to journal › Review › Research › peer-review

  Open Access

  File
  2 Citations (Scopus)

  8 Downloads (Pure)
• 2022

  Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency

  E-HOD Consortium, 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 848-861

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

  Open Access

  File
  9 Citations (Scopus)

  10 Downloads (Pure)

• No effect of triheptanoin in patients with phosphofructokinase deficiency

  Raaschou-Pedersen, D. E., Madsen, K. L., Lokken, N., Storgaard, J. H., Quinlivan, R., Laforet, P., Lund, A., Van Hall, G., Vissing, J. & Orngreen, M., Apr 2022, In: Neuromuscular Disorders. 32, 4, p. 295-304 10 p.

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

  Open Access

  File
  2 Citations (Scopus)

  15 Downloads (Pure)

• Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study

  Bayat, A., Aledo-Serrano, A., Gil-Nagel, A., Korff, C. M., Thomas, A., Boßelmann, C., Weber, Y., Gardella, E., Lund, A. M., de Sain-van der Velden, M. G. M. & Møller, R. S., 2022, In: Developmental Medicine and Child Neurology. 64, 6, p. 789-798 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  9 Citations (Scopus)

• Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

  Effraimidis, G., Rasmussen, Å. K., Dunoe, M., Hasholt, L. F., Wibrand, F., Sorensen, S. S., Lund, A. M., Kober, L., Bundgaard, H., Yazdanfard, P. D. W., Oturai, P., Larsen, V. A., de Abreu, V. H. F., Enevoldsen, L. H., Kristensen, T., Svenstrup, K., Bille, M. B., Arif, F., Mogensen, M., Klokker, M. & 3 others, Backer, V., Kistorp, C. & Feldt-Rasmussen, U., 2022, In: PLoS ONE. 17, 11, e0277767.

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

  Open Access

  File
  3 Citations (Scopus)

  21 Downloads (Pure)

• The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model

  Ahring, K. K., Dagnaes-Hansen, F., Bruel, A., Christensen, M., Jensen, E., Jensen, T. G., Johannsen, M., Johansen, K. S., Lund, A. M., Madsen, J. G., Brondum-Nielsen, K., Pedersen, M., Sorensen, L. K., Kjolby, M. & Moller, L. B., 11 Jan 2022, In: PLoS ONE. 17, 1, 26 p., 0261150.

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

  Open Access

  File
  3 Citations (Scopus)

  6 Downloads (Pure)

• The impact of rifaximin on inflammation and metabolism in alcoholic hepatitis: A randomized clinical trial

  Kimer, N., Meldgaard, M., Hamberg, O., Kronborg, T. M., Lund, A. M., Moller, H. J., Bendtsen, F. & Ytting, H., 2022, In: PLoS ONE. 17, 3, 13 p., 0264278.

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

  Open Access

  File
  18 Citations (Scopus)

  9 Downloads (Pure)
• 2021

  Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

  Strandbech, O. S., Lund, A. & Ostergaard, E., 2021, In: JIMD Reports. 59, 1, p. 10-15

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

  Open Access

  File
  39 Downloads (Pure)

• Genetic disease is a common cause of bilateral childhood cataract in Denmark

  Kessel, L., Bach-Holm, D., Al-Bakri, M., Roos, L., Lund, A. & Grønskov, K., 2021, In: Ophthalmic Genetics. 42, 6, p. 650-658

  Research output: Contribution to journal › Journal article › Research › peer-review
  10 Citations (Scopus)

• Use of molecular genetic analyses in danish routine newborn screening

  Lund, A. M., Wibrand, F., Skogstrand, K., Bækvad-Hansen, M., Gregersen, N., Andresen, B. S., Hougaard, D. M., Dunø, M. & Olsen, R. K. J., 2021, In: International Journal of Neonatal Screening. 7, 3, 50.

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

  Open Access

  File
  20 Downloads (Pure)
• 2020

  Behandling af monogene sygdomme ved viral transduktion af hæmatopoietiske stamceller

  Translated title of the contribution: Treatment of monogenic disorders with viral transduced haematopoietic stem cellsIfversen, M. S., Masmas, T. N., Kornblit, B., Rieneck, K., Kaastrup, E. K., Lund, A. M., Fischer-Nielsen, A. & Glenthøj, A., 2020, In: Ugeskrift for Laeger. 182, 46, 5 p., V06200458.

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

  Open Access

• 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., 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 290-296 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  25 Citations (Scopus)
• 2017

  The D313Y variant in the GLA gene–no evidence of a pathogenic role in Fabry disease

  Hasholt, L., Ballegaard, M., Bundgaard, H., Christiansen, M., Law, I., Lund, A. M., Norremolle, A., Krogh Rasmussen, A., Ravn, K., Tumer, Z., Wibrand, F. & Feldt-Rasmussen, U., 2017, In: Scandinavian Journal of Clinical and Laboratory Investigation. 77, 8, p. 617-621 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  16 Citations (Scopus)
• 2016

  >Svar: Vi beskriver ikkekomplekse tilstande

  Leganger, J., Lund, A. M., Farholt, S., Søborg, M. L. K., Burcharth, J. & Rosenberg, J., 2016, In: Ugeskrift for Laeger. 178, 12, p. 1191 1 p.

  Research output: Contribution to journal › Comment/debate › Research › peer-review
• 2015

  Diagnostik og behandling af fenylketonuri

  Translated title of the contribution: Diagnostics and treatment of phenylketonuriaBayat, A., Møller, L. B. & Lund, A. M., 16 Feb 2015, In: Ugeskrift for Laeger. 177, 8

  Research output: Contribution to journal › Review › Research › peer-review

  4 Citations (Scopus)

• Mild lesch–nyhan disease in a boy with a null mutation in HPRT1: An exception to the known genotype–phenotype correlation

  Bayat, A., Christensen, M., Wibrand, F., Duno, M. & Lund, A., 2015, JIMD Reports. Springer, p. 135-137 3 p. (JIMD Reports, Vol. 18).

  Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
  1 Citation (Scopus)
• 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., 2012, In: Annals of Nutrition and Metabolism. 61, 4, p. 289-95 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  70 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
  11 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., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 281-93 13 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  63 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., 2012, In: Molecular Genetics and Metabolism. 107, 4, p. 705-10 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  88 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., 2012, In: Journal of Inherited Metabolic Disease. 35, 5, p. 787-96 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  9 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
  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., 2012, In: Molecular Genetics and Metabolism. 106, 2, p. 175-88 14 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  36 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 others, Mortier, G. R., 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
  28 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., 2011, In: Paediatric Anaesthesia. 21, 12, p. 1269-70 2 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  2 Citations (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., 2011, In: Ugeskrift for Laeger. 173, 33, p. 1958-62 5 p.

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

• 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., 2011, In: Ugeskrift for Laeger. 173, 13, p. 973-4 2 p.

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

  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

• 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., 2011, In: Ugeskrift for Laeger. 173, 5, p. 337-42 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  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., 2011, In: Ugeskrift for Laeger. 173, 5, p. 333-7 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  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 others, Stewart, 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
  175 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., 2011, In: JIMD Reports. 3, p. 11-15 5 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  11 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 others, de 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
  95 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
  31 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
  29 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

• 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
  36 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
  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

  14 Citations (Scopus)