Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands

por Abrahamsen, Rannvá K., Lund, Allan M., Rasmussen, Jan
Publicado 2023

Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

por Cohen, Arieh S., Baurek, Marta, Lund, Allan M., Dunø, Morten, Hougaard, David M.
Publicado 2019

Genotype and phenotype classification of 29 patients affected by Krabbe disease

por Madsen, Anna M. H., Wibrand, Flemming, Lund, Allan M., Ek, Jakob, Dunø, Morten, Østergaard, Elsebet
Publicado 2019

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

por Rasmussen, Jan, Lund, Allan M., Risom, Lotte, Wibrand, Flemming, Gislason, Hannes, Nielsen, Olav W., Køber, Lars, Duno, Morten
Publicado 2014

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

por Storgaard, Jesper H., Madsen, Karen L., Løkken, Nicoline, Vissing, John, van Hall, Gerrit, Lund, Allan M., Ørngreen, Mette C.
Publicado 2020

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

por Kimer, Nina, Meldgaard, Mads, Hamberg, Ole, Kronborg, Thit Mynster, Lund, Allan M., Møller, Holger Jon, Bendtsen, Flemming, Ytting, Henriette
Publicado 2022

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

por Hennermann, Julia B., Guffon, Nathalie, Cattaneo, Federica, Ceravolo, Ferdinando, Borgwardt, Line, Lund, Allan M., Gil-Campos, Mercedes, Tylki-Szymanska, Anna, Muschol, Nicole M.
Publicado 2020

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

por Eiberg, Hans, Mikkelsen, Annemette F., Bak, Mads, Tommerup, Niels, Lund, Allan M., Wenzel, Anne, Sabarinathan, Radhakrishnan, Gorodkin, Jan, Bang-Berthelsen, Claus H., Hansen, Lars
Publicado 2019

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

por Phillips, Dawn, Hennermann, Julia B., Tylki-Szymanska, Anna, Borgwardt, Line, Gil-Campos, Mercedes, Guffon, Nathalie, Amraoui, Yasmina, Geraci, Silvia, Ardigò, Diego, Cattaneo, Federica, Lund, Allan M.
Publicado 2020

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

por Ahring, Kirsten K., Lund, Allan M., Jensen, Erik, Jensen, Thomas G., Brøndum-Nielsen, Karen, Pedersen, Michael, Bardow, Allan, Holst, Jens Juul, Rehfeld, Jens F., Møller, Lisbeth B.
Publicado 2018

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

por Tylki‐Szymańska, Anna, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Parini, Rossella, Wijburg, Frits A., Zeman, Jiri, Scarpa, Maurizio
Publicado 2018

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

por Parini, Rossella, Broomfield, Alexander, Cleary, Maureen A., De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Scarpa, Maurizio, Tylki‐Szymańska, Anna, Zeman, Jiří
Publicado 2018

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

por Ben-Omran, Tawfeg, Masana, Luis, Kolovou, Genovefa, Ariceta, Gema, Nóvoa, F. Javier, Lund, Allan M., Bogsrud, Martin P., Araujo, María, Hussein, Osamah, Ibarretxe, Daiana, Sanchez-Hernández, Rosa M., Santos, Raul D.
Publicado 2019

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

por Ahring, Kirsten K., Dagnæs-Hansen, Frederik, Brüel, Annemarie, Christensen, Mette, Jensen, Erik, Jensen, Thomas G., Johannsen, Mogens, Johansen, Karen S., Lund, Allan M., Madsen, Jesper G., Brøndum-Nielsen, Karen, Pedersen, Michael, Sørensen, Lambert K., Kjolby, Mads, Møller, Lisbeth B.
Publicado 2022

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-bl...

por Borgwardt, Line, Guffon, Nathalie, Amraoui, Yasmina, Dali, Christine I., De Meirleir, Linda, Gil-Campos, Mercedes, Heron, Bénédicte, Geraci, Silvia, Ardigò, Diego, Cattaneo, Federica, Fogh, Jens, Van den Hout, J. M. Hannerieke, Beck, Michael, Jones, Simon A., Tylki-Szymanska, Anna, Haugsted, Ulla, Lund, Allan M.
Publicado 2018

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

por Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F., Wibrand, Flemming, Sorensen, Soren S, Lund, Allan M., Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D. W., Oturai, Peter, Larsen, Vibeke A., de Abreu, Victor Hugo Fraga, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla
Publicado 2023

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

por Lund, Allan M., Borgwardt, Line, Cattaneo, Federica, Ardigò, Diego, Geraci, Silvia, Gil-Campos, Mercedes, De Meirleir, Linda, Laroche, Cécile, Dolhem, Philippe, Cole, Duncan, Tylki-Szymanska, Anna, Lopez-Rodriguez, Monica, Guillén-Navarro, Encarna, Dali, Christine I., Héron, Bénédicte, Fogh, Jens, Muschol, Nicole, Phillips, Dawn, Van den Hout, J. M. Hannerieke, Jones, Simon A., Amraoui, Yasmina, Harmatz, Paul, Guffon, Nathalie
Publicado 2018

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

por Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F., Wibrand, Flemming, Sorensen, Soren S., Lund, Allan M., Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D. W., Oturai, Peter, Larsen, Vibeke A., de Abreu, Vitor Hugo Fraga, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla
Publicado 2022

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

por Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Leão Teles, Elisa, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Publicado 2011

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

por Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin‐Hsiu, Cortès‐Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas
Publicado 2022