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Items: 1 to 20 of 144

1.

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, Bali DS.

Mol Genet Metab. 2012 Mar;105(3):519-21. doi: 10.1016/j.ymgme.2011.12.011. Epub 2011 Dec 21.

PMID:
22227323
2.

Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.

Dean CJ, Bockmann MR, Hopwood JJ, Brooks DA, Meikle PJ.

Clin Chem. 2006 Apr;52(4):643-9. Epub 2006 Feb 23.

3.

Brazilian reference values for MPS II screening in dried blood spots--a fluorimetric assay.

Rezende MM, Müller KB, Pereira VG, D'Almeida V.

Clin Biochem. 2014 Sep;47(13-14):1297-9. doi: 10.1016/j.clinbiochem.2014.06.010. Epub 2014 Jun 28.

PMID:
24979053
4.

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
5.

[Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].

Zhang WM, Shi HP, Li BT, Zhao SM, Qi QW, Sun NH, Huang SZ.

Zhonghua Er Ke Za Zhi. 2006 Sep;44(9):644-7. Chinese.

PMID:
17217652
6.

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
7.

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

Voznyi YV, Keulemans JL, van Diggelen OP.

J Inherit Metab Dis. 2001 Nov;24(6):675-80.

PMID:
11768586
8.

Direct assay of iduronate-2-sulfatase for Hunter disease using UPLC-tandem mass spectrometry and fluorogenic substrate.

Lee K, Jun SH, Song SH, Park HD, Park KU, Song J.

Clin Biochem. 2015 Dec;48(18):1350-3. doi: 10.1016/j.clinbiochem.2015.08.016. Epub 2015 Aug 18.

PMID:
26297117
9.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).

Wolfe BJ, Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH.

Anal Chem. 2011 Feb 1;83(3):1152-6. doi: 10.1021/ac102777s. Epub 2010 Dec 30.

10.

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
11.
12.

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.

13.

Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.

Chistiakov DA, Kuzenkova LM, Savost'anov KV, Gevorkyan AK, Pushkov AA, Nikitin AG, Vashakmadze ND, Zhurkova NV, Podkletnova TV, Namazova-Baranova LS, Baranov AA.

J Genet Genomics. 2014 Apr 20;41(4):197-203. doi: 10.1016/j.jgg.2014.01.007. Epub 2014 Feb 4.

PMID:
24780617
14.

Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer.

Laoharawee K, Podetz-Pedersen KM, Nguyen TT, Evenstar LB, Kitto KF, Nan Z, Fairbanks CA, Low WC, Kozarsky KF, McIvor RS.

Hum Gene Ther. 2017 Aug;28(8):626-638. doi: 10.1089/hum.2016.184. Epub 2017 May 5.

PMID:
28478695
15.

Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.

Parkinson EJ, Muller V, Hopwood JJ, Brooks DA.

Mol Genet Metab. 2004 Jan;81(1):58-64.

PMID:
14728992
16.

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay.

Keulemans JL, Sinigerska I, Garritsen VH, Huijmans JG, Voznyi YV, van Diggelen OP, Kleijer WJ.

Prenat Diagn. 2002 Nov;22(11):1016-21.

PMID:
12424767
17.

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
18.
19.

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.

Graham C, Sista RS, Kleinert J, Wu N, Eckhardt A, Bali D, Millington DS, Pamula VK.

Clin Biochem. 2013 Dec;46(18):1889-91. doi: 10.1016/j.clinbiochem.2013.09.003. Epub 2013 Sep 11.

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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