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Items: 1 to 20 of 269

1.

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
2.

Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene.

Christianto A, Watanabe H, Nakajima T, Inazu T.

Clin Chim Acta. 2013 Aug 23;423:66-8. doi: 10.1016/j.cca.2013.04.022. Epub 2013 Apr 30.

PMID:
23726270
3.

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.

4.

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
5.

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

Piña-Aguilar RE, Zaragoza-Arévalo GR, Rau I, Gal A, Alcántara-Ortigoza MA, López-Martínez MS, Santillán-Hernández Y.

Eur J Med Genet. 2013 Mar;56(3):159-62. doi: 10.1016/j.ejmg.2012.11.006. Epub 2012 Dec 8.

PMID:
23232253
6.

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy.

Jung SC, Park ES, Choi EN, Kim CH, Kim SJ, Jin DK.

Mol Cells. 2010 Jul;30(1):13-8. doi: 10.1007/s10059-010-0083-2. Epub 2010 Jul 14.

7.

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
8.

Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.

Karsten SL, Voskoboeva E, Carlberg BM, Kleijer WJ, Tsnnesen T, Pettersson U, Bondeson ML.

Hum Mutat. 1998;12(6):433.

PMID:
10671065
9.

Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation.

Sukegawa K, Matsuzaki T, Fukuda S, Masuno M, Fukao T, Kokuryu M, Iwata S, Tomatsu S, Orii T, Kondo N.

Clin Genet. 1998 Feb;53(2):96-101.

PMID:
9611068
10.

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
11.

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R.

Hum Mutat. 2001 Aug;18(2):164-5.

PMID:
11462244
12.

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.

Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK.

Clin Genet. 2012 Feb;81(2):185-90. doi: 10.1111/j.1399-0004.2011.01641.x. Epub 2011 Feb 24. Erratum in: Clin Genet. 2012 Sep;82(3):300.

PMID:
21291454
13.
14.

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
15.

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.

Řeboun M, Rybová J, Dobrovolný R, Včelák J, Veselková T, Štorkánová G, Mušálková D, Hřebíček M, Ledvinová J, Magner M, Zeman J, Pešková K, Dvořáková L.

Folia Biol (Praha). 2016;62(2):82-9.

16.

Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.

Higuchi T, Shimizu H, Fukuda T, Kawagoe S, Matsumoto J, Shimada Y, Kobayashi H, Ida H, Ohashi T, Morimoto H, Hirato T, Nishino K, Eto Y.

Mol Genet Metab. 2012 Sep;107(1-2):122-8. doi: 10.1016/j.ymgme.2012.05.005. Epub 2012 May 18.

PMID:
22704483
17.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

Lonardo F, Di Natale P, Lualdi S, Acquaviva F, Cuoco C, Scarano F, Maioli M, Pavone LM, Di Gregorio G, Filocamo M, Scarano G.

Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8.

PMID:
25044788
19.

Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.

Tajima G, Sakura N, Kosuga M, Okuyama T, Kobayashi M.

Mol Genet Metab. 2013 Mar;108(3):172-7. doi: 10.1016/j.ymgme.2012.12.010. Epub 2013 Jan 9.

PMID:
23375472
20.

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.

Kim CH, Hwang HZ, Song SM, Paik KH, Kwon EK, Moon KB, Yoon JH, Han CK, Jin DK.

Hum Mutat. 2003 Apr;21(4):449-50.

PMID:
12655569

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