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Items: 10

1.

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A.

Hum Mol Genet. 1992 Aug;1(5):335-9.

PMID:
1303211
2.

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A.

Hum Mutat. 1993;2(6):435-42. Review.

PMID:
8111411
3.

[Mutation analysis in Hunter patients].

Villani GR, Balzano N, Grosso M, Di Natale P.

Pediatr Med Chir. 1996 Jan-Feb;18(1):71-83. Review. Italian.

PMID:
8685029
4.

Hunter disease in the Spanish population: molecular analysis in 31 families.

Gort L, Chabás A, Coll MJ.

J Inherit Metab Dis. 1998 Aug;21(6):655-61. Review.

PMID:
9762601
5.

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.

Eur J Pediatr. 2008 Mar;167(3):267-77. Epub 2007 Nov 23. Review.

6.

Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment.

Beck M.

Curr Pharm Biotechnol. 2011 Jun;12(6):861-6. doi: 1389-2010/11 $58.00+.00. Review.

PMID:
21235446
7.

Mucopolysaccharidosis type II: an update on mutation spectrum.

Froissart R, Da Silva IM, Maire I.

Acta Paediatr. 2007 Apr;96(455):71-7. Review.

PMID:
17391447
8.

[Clinical practice guideline for the management of Hunter syndrome. Hunter España working group].

Guillén-Navarro E, Blasco AJ, Gutierrez-Solana LG, Couce ML, Cancho-Candela R, Lázaro P; grupo de trabajo Hunter España.

Med Clin (Barc). 2013 Nov 16;141(10):453.e1-13. doi: 10.1016/j.medcli.2013.07.010. Epub 2013 Sep 21. Spanish. No abstract available.

PMID:
24060500
9.

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.

Eur J Pediatr. 2012 Jan;171(1):181-8. doi: 10.1007/s00431-011-1606-3. Epub 2011 Oct 29.

10.

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.

Nur BG, Mıhçı E, Pepe S, Biberoğlu G, Ezgü FS, Ballabio A, Öztekin O, Dursun O.

Turk J Pediatr. 2014 Jul-Aug;56(4):418-22. Review.

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