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Page 1
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.
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.
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
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.
Case 2: Suspected non-accidental injury.
Juul K, Andersen J, Basile Cvitanich V, Meldgaard Lund A. Juul K, et al. Among authors: meldgaard lund a. Acta Paediatr. 2006 Oct;95(10):1322-3; discussion 1325-6. doi: 10.1080/08035250600580552. Acta Paediatr. 2006. PMID: 16982514 No abstract available.
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