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Items: 1 to 20 of 51

1.

Mucopolysaccharidosis type II, Hunter's syndrome.

Tylki-Szymańska A.

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

PMID:
25345092
2.

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Tomanin R, Zanetti A, D'Avanzo F, Rampazzo A, Gasparotto N, Parini R, Pascarella A, Concolino D, Procopio E, Fiumara A, Borgo A, Frigo AC, Scarpa M.

Orphanet J Rare Dis. 2014 Sep 18;9:129. doi: 10.1186/s13023-014-0129-1.

3.

Growth charts for patients with Hunter syndrome.

Patel P, Suzuki Y, Maeda M, Yasuda E, Shimada T, Orii KE, Orii T, Tomatsu S.

Mol Genet Metab Rep. 2014;1:5-18.

4.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.

Lampe C, Bosserhoff AK, Burton BK, Giugliani R, de Souza CF, Bittar C, Muschol N, Olson R, Mendelsohn NJ.

J Inherit Metab Dis. 2014 Sep;37(5):823-9. doi: 10.1007/s10545-014-9686-7. Epub 2014 Mar 5.

5.

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Lampe C, Atherton A, Burton BK, Descartes M, Giugliani R, Horovitz DD, Kyosen SO, Magalhães TS, Martins AM, Mendelsohn NJ, Muenzer J, Smith LD.

JIMD Rep. 2014;14:99-113. doi: 10.1007/8904_2013_289. Epub 2014 Feb 11.

6.

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
7.

Early initiation of enzyme replacement therapy for the mucopolysaccharidoses.

Muenzer J.

Mol Genet Metab. 2014 Feb;111(2):63-72. doi: 10.1016/j.ymgme.2013.11.015. Epub 2013 Dec 11. Review.

8.

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S.

Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1.

PMID:
24125893
9.

Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.

Annibali R, Caponi L, Morganti A, Manna M, Gabrielli O, Ficcadenti A.

Minerva Pediatr. 2013 Oct;65(5):487-96.

PMID:
24056375
10.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.

Guillén-Navarro E, Domingo-Jiménez MR, Alcalde-Martín C, Cancho-Candela R, Couce ML, Galán-Gómez E, Alonso-Luengo O.

Orphanet J Rare Dis. 2013 Jun 25;8:92. doi: 10.1186/1750-1172-8-92.

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.

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan.

Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, Tanaka T, Otomo T, Ohashi T, Ishige-Wada M, Yabe H, Ohura T, Suzuki N, Kato K, Adachi S, Kobayashi R, Mugishima H, Kato S.

Mol Genet Metab. 2012 Nov;107(3):513-20. doi: 10.1016/j.ymgme.2012.09.004. Epub 2012 Sep 7.

PMID:
23022072
13.

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
14.

Brain-penetrating IgG-iduronate 2-sulfatase fusion protein for the mouse.

Zhou QH, Boado RJ, Lu JZ, Hui EK, Pardridge WM.

Drug Metab Dispos. 2012 Feb;40(2):329-35. doi: 10.1124/dmd.111.042903. Epub 2011 Nov 7.

15.

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..

Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72.

16.

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.

17.

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio D.

J Hum Genet. 2011 Jul;56(7):516-23. doi: 10.1038/jhg.2011.51. Epub 2011 May 19.

PMID:
21593745
18.

Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II.

Holt J, Poe MD, Escolar ML.

J Pediatr. 2011 Aug;159(2):320-6.e2. doi: 10.1016/j.jpeds.2011.03.019. Epub 2011 Apr 29.

PMID:
21530981
19.

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.

Schulze-Frenking G, Jones SA, Roberts J, Beck M, Wraith JE.

J Inherit Metab Dis. 2011 Feb;34(1):203-8. doi: 10.1007/s10545-010-9215-2. Epub 2010 Oct 27.

20.

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Pinto LL, Vieira TA, Giugliani R, Schwartz IV.

Orphanet J Rare Dis. 2010 May 28;5:14. doi: 10.1186/1750-1172-5-14. Review.

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