Patients With Medium-Chain Acyl–Coenzyme A Dehydrogenase Deficiency Have Impaired Oxidation of Fat During Exercise but No Effect of l-Carnitine Supplementation
Madsen, K. L, Preisler, N, Orngreen, M. C, Andersen, S. P, Olesen, J. H, Lund, A. M, Vissing, J
Published in The journal of clinical endocrinology and metabolism (01.04.2013)
Published in The journal of clinical endocrinology and metabolism (01.04.2013)
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Journal Article
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
Published in Neurology (23.11.2010)
Published in Neurology (23.11.2010)
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Journal Article
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
Borgwardt, L., Dali, C. I., Fogh, J., Månsson, J. E., Olsen, K. J., Beck, H. C., 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. A., Tylki-Szymanska, A., Guffon-Fouiloux, N., Beck, M., Lund, A. M.
Published in Journal of inherited metabolic disease (01.11.2013)
Published in Journal of inherited metabolic disease (01.11.2013)
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Journal Article
The course and determinants of post-traumatic stress over 12 months after hospitalization for COVID-19
Stavem, Knut, Heir, Trond, Dammen, Toril, Brønstad, Eivind, Lerum, Tøri Vigeland, Durheim, Michael T., Lund, Kristine M. A., Aarli, Bernt B., Einvik, Gunnar
Published in Frontiers in psychiatry (15.07.2022)
Published in Frontiers in psychiatry (15.07.2022)
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Journal Article
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, AM, Roebrock, K, Christensen, E, Häberle, J
Published in Clinical genetics (01.09.2009)
Published in Clinical genetics (01.09.2009)
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Journal Article
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function
Borgwardt, L., Danielsen, E.R., Thomsen, C., Månsson, J.E., Taouatas, N., Thuesen, A.M., Olsen, K.J., Fogh, J., Dali, C.I., Lund, A.M.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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Journal Article
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., Skakkebæk, N.E., Rajpert-De Meyts, E.
Published in Human reproduction (Oxford) (01.07.2007)
Published in Human reproduction (Oxford) (01.07.2007)
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Journal Article
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
Lund, A. M, Joensen, F, Hougaard, D. M, Jensen, L. K, Christensen, E, Christensen, M, Nørgaard-Petersen, B, Schwartz, M, Skovby, F
Published in Journal of inherited metabolic disease (01.06.2007)
Published in Journal of inherited metabolic disease (01.06.2007)
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Journal Article
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.
Published in British journal of dermatology (1951) (01.03.2009)
Published in British journal of dermatology (1951) (01.03.2009)
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Journal Article
Cardiovascular function in 8- to 9-year-old singletons born after ART with frozen and fresh embryo transfer
Mizrak, I, Asserhøj, L L, Lund, M A V, Kielstrup, L R, Greisen, G, Clausen, T D, Main, K M, Jensen, R B, Vejlstrup, N G, Madsen, P L, Pinborg, A
Published in Human reproduction (Oxford) (01.03.2022)
Published in Human reproduction (Oxford) (01.03.2022)
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Journal Article
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
Christensen, M., Duno, M., Lund, A. M., Skovby, F., Christensen, E.
Published in Journal of inherited metabolic disease (01.04.2007)
Published in Journal of inherited metabolic disease (01.04.2007)
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Journal Article
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.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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Journal Article
Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults
Hald, J.D., Folkestad, L., Swan, C.Z., Wanscher, J., Schmidt, M., Gjørup, H., Haubek, D., Leonhard, C.-H., Larsen, D.A., Hjortdal, J.Ø., Harsløf, T., Duno, M., Lund, A.M., Jensen, J.-E.B., Brixen, K., Langdahl, B.
Published in Osteoporosis international (01.12.2018)
Published in Osteoporosis international (01.12.2018)
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Journal Article
Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure
Hald, J. D., Folkestad, L., Harsløf, T., Lund, A. M., Duno, M., Jensen, J. B., Neghabat, S., Brixen, K., Langdahl, B.
Published in Osteoporosis international (01.11.2016)
Published in Osteoporosis international (01.11.2016)
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Journal Article
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.
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Journal Article
Collagen-derived markers of bone metabolism in osteogenesis imperfecta
Lund, AM, Hansen, M, Kollerup, G, Juul, A, Teisner, B, Skovby, F
Published in Acta Paediatrica (01.11.1998)
Published in Acta Paediatrica (01.11.1998)
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Journal Article
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis
Borgwardt, L., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I., Lund, A. M.
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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Journal Article
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.
Published in Annals of nutrition and metabolism (01.01.2012)
Published in Annals of nutrition and metabolism (01.01.2012)
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Journal Article