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Items: 1 to 20 of 105

1.

Mucopolysaccharidosis type II with inguinal hernia.

Rayamajhi A, Pokharel PJ, Chapagain R, Rayamajhi AK.

J Nepal Health Res Counc. 2013 Sep;11(25):293-5.

PMID:
24908534
2.

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J.

Pediatrics. 2008 Feb;121(2):e377-86. doi: 10.1542/peds.2007-1350. Review.

PMID:
18245410
3.

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E.

Eur J Med Genet. 2010 Nov-Dec;53(6):371-7. doi: 10.1016/j.ejmg.2010.07.013. Epub 2010 Aug 10.

PMID:
20709629
4.

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.

Chkioua L, Khedhiri S, Ferchichi S, Tcheng R, Chahed H, Froissart R, Vianey-Saban C, Laradi S, Miled A.

Diagn Pathol. 2011 May 23;6:42. doi: 10.1186/1746-1596-6-42.

5.

Mucopolysaccharidosis type II in females: case report and review of literature.

Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA.

Pediatr Neurol. 2005 Apr;32(4):270-2. Review.

PMID:
15797184
6.

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.

Gupta A, Uttarilli A, Dalal A, Girisha KM.

BMJ Case Rep. 2015 May 14;2015. pii: bcr2015209305. doi: 10.1136/bcr-2015-209305.

7.

Initial report from the Hunter Outcome Survey.

Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; HOS Investigators.

Genet Med. 2008 Jul;10(7):508-16. doi: 10.1097GIM.0b013e31817701e6.

PMID:
18580692
8.

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.

Johnson BA, van Diggelen OP, Dajnoki A, Bodamer OA.

Curr Protoc Hum Genet. 2013 Oct 18;79:Unit 17.14.. doi: 10.1002/0471142905.hg1714s79.

PMID:
24510650
9.

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases.

Sohn YB, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, Jeong SI, Huh J, Kang IS, Lee HJ, Paik KH, Jin DK.

Am J Med Genet A. 2012 Jan;158A(1):90-6. doi: 10.1002/ajmg.a.34371. Epub 2011 Nov 21.

PMID:
22105882
10.

Hunter syndrome follow-up after 1 year of enzyme-replacement therapy.

Puiu M, Chirita-Emandi A, Dumitriu S, Arghirescu S.

BMJ Case Rep. 2013 Jan 9;2013. pii: bcr2012007644. doi: 10.1136/bcr-2012-007644.

11.

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.

Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S.

Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21.

PMID:
23707223
12.

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK.

Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589.

PMID:
21108396
13.

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.

Ceravolo F, Mascaro I, Sestito S, Pascale E, Lauricella A, Dizione E, Concolino D.

Ital J Pediatr. 2013 Sep 9;39:53. doi: 10.1186/1824-7288-39-53.

14.

Mucopolysaccharidosis type II, Hunter's syndrome.

Tylki-Szymańska A.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:107-13. Review.

PMID:
25345092
15.

Mucopolysaccharidosis VI.

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S.

Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Review.

16.

The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.

Żuber Z, Różdżyńska-Świątkowska A, Jurecka A, Tylki-Szymańska A.

PLoS One. 2014 Jan 13;9(1):e85074. doi: 10.1371/journal.pone.0085074. eCollection 2014.

17.

Successful use of spinal anesthesia for inguinal hernia repair in a child with Hunter syndrome with difficult airway.

Kumar KR, Kumar H, Baidya DK, Arora MK.

J Clin Anesth. 2016 May;30:99-100. doi: 10.1016/j.jclinane.2015.08.025. Epub 2015 Oct 24. No abstract available.

PMID:
26604014
18.

Long-term enzyme replacement therapy in a severe case of mucopolysaccharidosis type II (Hunter syndrome).

Papadia F, Lozupone MS, Gaeta A, Capodiferro D, Lacalendola G.

Eur Rev Med Pharmacol Sci. 2011 Mar;15(3):253-8.

PMID:
21528770
19.

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).

da Silva EM, Strufaldi MW, Andriolo RB, Silva LA.

Cochrane Database Syst Rev. 2011 Nov 9;(11):CD008185. doi: 10.1002/14651858.CD008185.pub2. Review. Update in: Cochrane Database Syst Rev. 2014;1:CD008185.

PMID:
22071845
20.

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.

Jurecka A, Krumina Z, Żuber Z, Różdżyńska-Świątkowska A, Kłoska A, Czartoryska B, Tylki-Szymańska A.

Am J Med Genet A. 2012 Feb;158A(2):450-4. doi: 10.1002/ajmg.a.34415. Epub 2012 Jan 13.

PMID:
22246721

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