Bodamer O - Search Results

1

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.

Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R, Jones S, Rojas MV, Scarpa M, Beck M, Harmatz P. Muenzer J, et al. Among authors: bodamer o. Eur J Pediatr. 2012 Jan;171(1):181-8. doi: 10.1007/s00431-011-1606-3. Epub 2011 Oct 29. Eur J Pediatr. 2012. PMID: 22037758 Free PMC article.

2

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.

Cohn GM, Morin I, Whiteman DA; Hunter Outcome Survey Investigators. Cohn GM, et al. Eur J Pediatr. 2013 Jul;172(7):965-70. doi: 10.1007/s00431-013-1967-x. Epub 2013 Mar 7. Eur J Pediatr. 2013. PMID: 23468122 Free PMC article.

3

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. 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.

4

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960

5

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

Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Scarpa M, et al. Among authors: bodamer o. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. Orphanet J Rare Dis. 2011. PMID: 22059643 Free PMC article.

6

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. Among authors: bodamer o. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

7

Newborn Screening for Pompe Disease.

Bodamer OA, Scott CR, Giugliani R; Pompe Disease Newborn Screening Working Group. Bodamer OA, et al. Pediatrics. 2017 Jul;140(Suppl 1):S4-S13. doi: 10.1542/peds.2016-0280C. Pediatrics. 2017. PMID: 29162673

8

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.

de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. de Ru MH, et al. Orphanet J Rare Dis. 2012 Apr 23;7:22. doi: 10.1186/1750-1172-7-22. Orphanet J Rare Dis. 2012. PMID: 22524701 Free PMC article.

9

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.

Bodamer OA, Giugliani R, Wood T. Bodamer OA, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):34-41. doi: 10.1016/j.ymgme.2014.07.013. Epub 2014 Jul 16. Mol Genet Metab. 2014. PMID: 25127543 Review.

10

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Bodamer O, Scarpa M, Hung C, Pulles T, Giugliani R. Bodamer O, et al. Mol Genet Metab Rep. 2017 May 3;11:62-64. doi: 10.1016/j.ymgmr.2017.02.004. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28516041 Free PMC article.

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