Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

Madsen, C. V., Granqvist, H., Petersen, J. H., Rasmussen, Å. K., Lund, A. M., Oturai, P., Sørensen, S. S. & Feldt-Rasmussen, U., 1 Sep 2019, In : Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 34, 9, p. 1525-1533 9 p.

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

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), 2019, In : Journal of Inherited Metabolic Disease.

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

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

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

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

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

Additional individual contributors of the UCDC and the E-IMD consortium & Lund, A. M., 2019, In : Journal of Inherited Metabolic Disease.

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

l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

Madsen, K. L., Preisler, N., Rasmussen, J., Hedermann, G., Olesen, J. H., Lund, A. M. & Vissing, J., 1 Dec 2018, In : The Journal of clinical endocrinology and metabolism. 103, 12, p. 4580-4588 9 p.

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

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., 1 Dec 2018, In : Osteoporosis International. 29, 12, p. 2781-2789

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

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

Parini, R., Broomfield, A., Cleary, M. A., De Meirleir, L., Di Rocco, M., Fathalla, W. M., Guffon, N., Lampe, C., Lund, A. M., Scarpa, M., Tylki-Szymańska, A. & Zeman, J., Dec 2018, In : Acta paediatrica. 107, 12, p. 2059-2065 7 p.

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

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 journal › Journal article › Research › peer-review

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 journal › Journal article › Research › peer-review

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki-Szymańska, A., De Meirleir, L., Di Rocco, M., Fathalla, W. M., Guffon, N., Lampe, C., Lund, A. M., Parini, R., Wijburg, F. A., Zeman, J. & Scarpa, M., Aug 2018, In : Acta paediatrica. 107, 8, p. 1402-1408 7 p.

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

Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia

Bech, L. F., Donneborg, M. L., Lund, A. M. & Ebbesen, F., Aug 2018, In : Pediatric Research. 84, 2, p. 228-232 5 p.

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

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

additional individual contributors of the E-IMD consortium, 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., Jul 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 743-744 2 p.

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

Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

Mamsen, L. S., Kelsey, T. W., Ernst, E., Macklon, K. T., Lund, A. M. & Andersen, C. Y., Jul 2018, In : Journal of Assisted Reproduction and Genetics. 35, 7, p. 1209-1217 9 p.

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

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

Harmatz, P., Cattaneo, F., Ardigò, D., Geraci, S., Hennermann, J. B., Guffon, N., Lund, A., Hendriksz, C. J. & Borgwardt, L., Jun 2018, In : Molecular Genetics and Metabolism. 124, 2, p. 152-160 9 p.

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

The impact of consanguinity on the frequency of inborn errors of metabolism

Afzal, R. M., Lund, A. M. & Skovby, F., Jun 2018, In : Molecular Genetics and Metabolism Reports. 15, p. 6-10 5 p.

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

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Steenhof, M., Kibæk, M., Larsen, M. J., Christensen, M., Lund, A. M., Brusgaard, K. & Hertz, J. M., 12 May 2018, In : Neurogenetics. 19, 3, p. 145-149

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

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Khaikin, Y., Sidky, S., Abdenur, J., Anastasi, A., Ballhausen, D., Buoni, S., Chan, A., Cheillan, D., Dorison, N., Goldenberg, A., Goldstein, J., Hofstede, F. C., Jacquemont, M-L., Koeberl, D. D., Lion-Francois, L., Lund, A. M., Mention, K., Mundy, H., O'Rourke, D., Pitelet, G., Raspall-Chaure, M., Tassini, M., Billette de Villemeur, T., Williams, M., Salomons, G. S. & Mercimek-Andrews, S., May 2018, In : European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 22, 3, p. 369-379 11 p.

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

Udredning af krampeanfald i neonatalperioden

Jensen, K. V., Hansen, B. M., Lund, A. M. & Miranda, M. J., 2 Apr 2018, In : Ugeskrift for Laeger. 180, 14, p. V04170297 8 p.

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

Hyperglucagonemia correlates with plasma levels of non-branched chained amino acids in patients with liver disease independent of type 2 diabetes

Wewer Albrechtsen, N. J., Junker, A. E., Christensen, M., Hædersdal, S., Wibrand, F., Lund, A. M., Galsgaard, K. D., Holst, J. J., Knop, F. K. & Vilsbøll, T., 10 Jan 2018, In : American Journal of Physiology: Gastrointestinal and Liver Physiology. p. ajpgi.00216.2017

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

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Ahring, K. K., Lund, A. M., Jensen, E., Jensen, T. G., Brøndum-Nielsen, K., Pedersen, M., Bardow, A., Holst, J. J., Rehfeld, J. F. & Møller, L. B., 2018, In : Nutrition and Metabolism. 2018, p. 6352919

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

Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1

Sundberg, J., Wibrand, F., Lund, A. M. & Christensen, M., 2018, In : Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 1072, p. 259-266 8 p.

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

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 journal › Journal article › Research › peer-review

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., Dec 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

Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS

Nørmark, M. B., Kjaer, N. & Lund, A. M., 2017, In : JIMD Reports. 36, p. 29-33 5 p.

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

Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

Rasmussen, J., Hougaard, D. M., Sandhu, N., Fjællegaard, K., Petersen, P. R., Steuerwald, U. & Lund, A. M., 2017, In : JIMD Reports. 36, p. 35-40 6 p.

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

Splenomegaly - Diagnostic validity, work-up, and underlying causes

Curovic Rotbain, E., Lund Hansen, D., Schaffalitzky de Muckadell, O., Wibrand, F., Meldgaard Lund, A. & Frederiksen, H., 2017, In : P L o S One. 12, 11, p. e0186674

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

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

Bayat, A., Yasmeen, S., Lund, A., Nielsen, J. B. & Møller, L. B., Sep 2016, In : Clinical Genetics. 90, 3, p. 247-51

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

Debut af arvelig metabolisk encefalopati kan ses efter neonatalperioden

Sørensen, L. C., Rehman, S. & Lund, A. M., 30 May 2016, In : Ugeskrift for Laeger. 178, 22, p. V12151013

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

Ehlers-Danlos' Syndrom

Leganger, J., Søborg, M-L. K., Farholt, S., Lund, A. M., Rosenberg, J. & Burcharth, J., 25 Apr 2016, In : Ugeskrift for Laeger. 178, 17, p. V01160014

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

Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

Borgwardt, L. G., Danielsen, E. R., Thomsen, C., Månsson, J. E., Taouatas, N., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I. & Lund, A., Apr 2016, In : Clinical Genetics. 89, 4, p. 489-494

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

Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue

Bendroth-Asmussen, L., Aksglaede, L., Gernow, A. B. & Lund, A. M., 2016, In : International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists. 35, 1, p. 38-40

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

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 journal › Journal article › Research › peer-review

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., 2016, In : Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 27, 11, p. 3331-41

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

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 journal › Journal article › Research › peer-review

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 journal › Journal article › Research › peer-review

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 journal › Journal article › Research › peer-review

Splenomegali og dårlig trivselsom følge af morbus Gaucher

Hansen, G. L., Lund, A. M. & Børresen, M. L., 7 Sep 2015, In : Ugeskrift for Laeger. 177, 37, p. V04150358

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

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

Rasmussen, J., Lund, A. M., Risom, L., Wibrand, F., Gislason, H., Wendelboe Nielsen, O., Køber, L. & Dunø, M., 22 May 2015, In : Molecular Genetics and Metabolism Reports. 1, p. 241-248

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

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Aksglaede, L., Christensen, M., Olesen, J. H., Duno, M., Olsen, R. K. J., Andresen, B. S., Hougaard, D. M. & Lund, A. M., 13 Mar 2015, In : JIMD Reports. 23, p. 67-70

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

Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

Thomsen, J. A., Lund, A. M., Olesen, J. H., Mohr, M. & Rasmussen, J., 3 Mar 2015, In : JIMD Reports. 21, p. 79-88

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

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A. H., Veenstra-Knol, H. E., Herkert, J. C., Lund, A. M., Hennekam, R. C. M., Mégarbané, A., Lees, M. M., Wilson, L. C., Male, A., Hurst, J., Alanay, Y., Annerén, G., Betz, R. C., Bongers, E. M. H. F., Cormier-Daire, V., Dieux, A., David, A., Elting, M. W., van den Ende, J., Green, A., van Hagen, J. M., Hertel, N. T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H. D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E. M., Tobias, E. S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N. V., Coucke, P. & Mortier, G. R., Mar 2015, In : American Journal of Medical Genetics. Part A. 167, 3, p. 461-75 15 p.

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

Diagnostik og behandling af fenylketonuri

Bayat, A., Møller, L. B. & Lund, A. M., 16 Feb 2015, In : Ugeskrift for læger [online]. 177, 8, p. V07140383

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

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Borgwardt, L., Stensland, H. M. F. R., Olsen, K. J., Wibrand, F., Klenow, H. B., Beck, M., Amraoui, Y., Arash, L., Fogh, J., Nilssen, Ø., Dali, C. I. & Lund, A. M., 2015, In : Orphanet Journal of Rare Diseases. 10, p. 70

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

Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation

Rasmussen, J., Thomsen, J. A., Olesen, J. H., Lund, T. M., Mohr, M., Clementsen, J., Nielsen, O. W. & Lund, A. M., 2015, In : JIMD Reports. 20, p. 103-11 9 p.

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

Mild Lesch-Nyhan Disease in a Boy with a Null Mutation inHPRT1: An Exception to the Known Genotype-Phenotype Correlation

Bayat, A., Christensen, M., Wibrand, F., Duno, M. & Lund, A., 2015, In : JIMD Reports. 18, p. 135-37

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

Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment

Borgwardt, L., Lund, A. M. & Dali, C. I., Sep 2014, In : Pediatric Endocrinology Reviews. 12 Suppl 1, p. 185-91 7 p.

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

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Valencia, M., Caparrós-Martin, J. A., Sirerol-Piquer, M. S., García-Verdugo, J. M., Martínez-Glez, V., Lapunzina, P., Temtamy, S., Aglan, M., Lund, A. M., Nikkels, P. G. J., Ruiz-Perez, V. L. & Ostergaard, E., May 2014, In : American Journal of Medical Genetics. Part A. 164A, 5, p. 1143-50 8 p.

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