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11 results
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Fabry disease in children: agalsidase-beta enzyme replacement therapy.
Borgwardt L, Feldt-Rasmussen U, Rasmussen AK, Ballegaard M, Meldgaard Lund A. Borgwardt L, et al. Among authors: meldgaard lund a. Clin Genet. 2013 May;83(5):432-8. doi: 10.1111/j.1399-0004.2012.01947.x. Epub 2012 Sep 27. Clin Genet. 2013. PMID: 22880956
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. Wraith JE, et al. Among authors: meldgaard lund a. Eur J Pediatr. 2008 Mar;167(3):267-77. doi: 10.1007/s00431-007-0635-4. Epub 2007 Nov 23. Eur J Pediatr. 2008. PMID: 18038146 Free PMC article. 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. Curovic Rotbain E, et al. Among authors: meldgaard lund a. PLoS One. 2017 Nov 14;12(11):e0186674. doi: 10.1371/journal.pone.0186674. eCollection 2017. PLoS One. 2017. PMID: 29135986 Free PMC article.
Protein-losing enteropathy in a child with junctional epidermolysis bullosa and pyloric atresia.
Meldgaard Lund A, Karlsmark T, Kobayasi T. Meldgaard Lund A, et al. Acta Derm Venereol. 1995 Jan;75(1):59-61. doi: 10.2340/00015555755961. Acta Derm Venereol. 1995. PMID: 7747538
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators. Patterson MC, et al. Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z. Orphanet J Rare Dis. 2015. PMID: 26017010 Free PMC article.
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ; HOS Natural History Working Group on behalf of HOS Investigators. Jones SA, et al. Mol Genet Metab. 2013 May;109(1):41-8. doi: 10.1016/j.ymgme.2013.03.001. Epub 2013 Mar 14. Mol Genet Metab. 2013. PMID: 23537841 Free article.
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS).
Burton BK, Whiteman DA; HOS Investigators. Burton BK, et al. Mol Genet Metab. 2011 Jun;103(2):113-20. doi: 10.1016/j.ymgme.2011.02.018. Epub 2011 Mar 4. Mol Genet Metab. 2011. PMID: 21439875
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.
Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.
Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA; HOS investigators. Burton BK, et al. Mol Genet Metab. 2010 Oct-Nov;101(2-3):123-9. doi: 10.1016/j.ymgme.2010.06.011. Epub 2010 Jun 23. Mol Genet Metab. 2010. PMID: 20638311
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: meldgaard lund a. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
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