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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
Wraith, J. Edmond, Scarpa, Maurizio, Beck, Michael, Bodamer, Olaf A., De Meirleir, Linda, Guffon, Nathalie, Meldgaard Lund, Allan, Malm, Gunilla, Van der Ploeg, Ans T., Zeman, Jiri
Published in European journal of pediatrics (01.03.2008)
Published in European journal of pediatrics (01.03.2008)
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Journal Article
The impact of consanguinity on the frequency of inborn errors of metabolism
Afzal, Raja Majid, Lund, Allan Meldgaard, Skovby, Flemming
Published in Molecular genetics and metabolism reports (01.06.2018)
Published in Molecular genetics and metabolism reports (01.06.2018)
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Journal Article
Casuistic Use of High-Dose Methylprednisolone in a Child with Acute Encephalopathy due to Metabolic Crisis in HIBCH Deficiency
Nissen, Ida Bo, Christensen, Johnny Kent, Lund, Allan Meldgaard, Sorensen, Line Caroe
Published in Journal of inborn errors of metabolism and screening (2025)
Published in Journal of inborn errors of metabolism and screening (2025)
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Journal Article
Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis
Borgwardt, Line Gutte, Ceravolo, Ferdinando, Zardi, Giulia, Ballabeni, Andrea, Lund, Allan Meldgaard
Published in JIMD reports (01.03.2023)
Published in JIMD reports (01.03.2023)
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Journal Article
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
Khaikin, Yannay, Sidky, Sarah, Abdenur, Jose, Anastasi, Arnaud, Ballhausen, Diana, Buoni, Sabrina, Chan, Alicia, Cheillan, David, Dorison, Nathalie, Goldenberg, Alice, Goldstein, Jennifer, Hofstede, Floris C., Jacquemont, Marie-Line, Koeberl, Dwight D., Lion-Francois, Laurence, Lund, Allan Meldgaard, Mention, Karine, Mundy, Helen, O'Rourke, Declan, Pitelet, Gaele, Raspall-Chaure, Miquel, Tassini, Maria, Billette de Villemeur, Thierry, Williams, Monique, Salomons, Gajja S., Mercimek-Andrews, Saadet
Published in European journal of paediatric neurology (01.05.2018)
Published in European journal of paediatric neurology (01.05.2018)
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Journal Article
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, Olsen, Rikke Katrine Jentoft
Published in International journal of neonatal screening (26.07.2021)
Published in International journal of neonatal screening (26.07.2021)
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Journal Article
Case 2: Suspected non-accidental injury
JUUL, Klaus, ANDERSEN, Jesper, CVITANICH, Veronica Basile, LUND, Allan Meldgaard
Published in Acta pædiatrica (Oslo) (01.10.2006)
Published in Acta pædiatrica (Oslo) (01.10.2006)
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Journal Article
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
Erbs, Emilie, Brasen, Claus Lohman, Lund, Allan Meldgaard, Rasmussen, Maria
Published in European journal of medical genetics (01.03.2023)
Published in European journal of medical genetics (01.03.2023)
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Journal Article
Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1
Sundberg, Jonas, Wibrand, Flemming, Lund, Allan Meldgaard, Christensen, Mette
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.01.2018)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (01.01.2018)
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Journal Article
The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria
Nielsen, Maja Risager, Jørgensen, Christine, Ahring, Kirsten, Lund, Allan Meldgaard, Ørngreen, Mette Cathrine
Published in Journal of inherited metabolic disease (01.07.2023)
Published in Journal of inherited metabolic disease (01.07.2023)
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Journal Article
L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency
Madsen, Karen Lindhardt, Preisler, Nicolai, Rasmussen, Jan, Hedermann, Gitte, Olesen, Jess Have, Lund, Allan Meldgaard, Vissing, John
Published in The journal of clinical endocrinology and metabolism (01.12.2018)
Published in The journal of clinical endocrinology and metabolism (01.12.2018)
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Journal Article
Cryopreservation of ovarian tissue may be considered in young girls with galactosemia
Mamsen, Linn Salto, Kelsey, Thomas W., Ernst, Erik, Macklon, Kirsten Tryde, Lund, Allan Meldgaard, Andersen, Claus Yding
Published in Journal of assisted reproduction and genetics (01.07.2018)
Published in Journal of assisted reproduction and genetics (01.07.2018)
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Journal Article
The impact of consanguinity on the frequency of inborn errors of metabolism
Afzal, Raja Majid, Lund, Allan Meldgaard, Skovby, Flemming
Published in Danish medical journal (01.10.2018)
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Published in Danish medical journal (01.10.2018)
Journal Article
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis
Šáhó, Robert, Formánková, Renata, Eisengart, Julie B., Lund, Allan Meldgaard, Videbaek, Cecilie, Gürbüz, Berrak Bilginer, Özbek, Namık Yaşar, Jasmi, Fatma, Ješina, Pavel, Feillet, François, Pochon, Cécile, Guémann, Anne‐Sophie, AlSayed, Moeenaldeen, Laktina, Sabine, Uçar, Sema Kalkan, Aksoylar, Serap, Lund, Troy C., Orchard, Paul John, Eminoğlu, Fatma Tuba, İleri, Talia, Kasapkara, Çiğdem Seher, Yeşilipek, Akif, Tuncel, Ali Tunç, Schulz, Ansgar, Juríčková, Katarína, Hlavatá, Anna, Santoro, Lucia, Magner, Martin
Published in Journal of inherited metabolic disease (01.07.2025)
Published in Journal of inherited metabolic disease (01.07.2025)
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Journal Article
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose
Madsen, Karen Lindhardt, Stemmerik, Mads Godtfeldt, Buch, Astrid Emilie, Poulsen, Nanna Scharff, Lund, Allan Meldgaard, Vissing, John
Published in The journal of clinical endocrinology and metabolism (01.09.2019)
Published in The journal of clinical endocrinology and metabolism (01.09.2019)
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Journal Article
No effect of triheptanoin in patients with phosphofructokinase deficiency
Raaschou-Pedersen, Daniel Emil, Madsen, Karen Lindhardt, Løkken, Nicoline, Storgaard, Jesper Helbo, Quinlivan, Ros, Laforêt, Pascal, Lund, Allan, Van Hall, Gerrit, Vissing, John, Ørngreen, Mette
Published in Neuromuscular disorders : NMD (01.04.2022)
Published in Neuromuscular disorders : NMD (01.04.2022)
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Journal Article
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
Borgwardt, Line, Stensland, Hilde Monica Frostad Riise, Olsen, Klaus Juul, Wibrand, Flemming, Klenow, Helle Bagterp, Beck, Michael, Amraoui, Yasmina, Arash, Laila, Fogh, Jens, Nilssen, Øivind, Dali, Christine I, Lund, Allan Meldgaard
Published in Orphanet journal of rare diseases (06.06.2015)
Published in Orphanet journal of rare diseases (06.06.2015)
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Journal Article