These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
203 related articles for article (PubMed ID: 22227323)
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. PubMed ID: 22227323 [TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 24979053 [TBL] [Abstract][Full Text] [Related]
3. [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. PubMed ID: 17217652 [TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16497940 [TBL] [Abstract][Full Text] [Related]
5. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. Johnson BA; van Diggelen OP; Dajnoki A; Bodamer OA Curr Protoc Hum Genet; 2013 Oct; 79():17.14.1-17.14.9. PubMed ID: 24510650 [TBL] [Abstract][Full Text] [Related]
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; 526(2):150-4. PubMed ID: 23707223 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 26297117 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 11768586 [TBL] [Abstract][Full Text] [Related]
9. Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome. Liebaers I; Neufeld E Pediatr Res; 1976 Aug; 10(8):733-6. PubMed ID: 821034 [TBL] [Abstract][Full Text] [Related]
10. 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; 41(4):197-203. PubMed ID: 24780617 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 28478695 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12424767 [TBL] [Abstract][Full Text] [Related]
13. 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; 423():66-8. PubMed ID: 23726270 [TBL] [Abstract][Full Text] [Related]
14. Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl. Semyachkina AN; Voskoboeva EY; Zakharova EY; Nikolaeva EA; Kanivets IV; Kolotii AD; Baydakova GV; Kharabadze MN; Kuramagomedova RG; Melnikova NV BMC Med Genet; 2019 May; 20(1):66. PubMed ID: 31046699 [TBL] [Abstract][Full Text] [Related]
15. 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; 83(3):1152-6. PubMed ID: 21192662 [TBL] [Abstract][Full Text] [Related]
16. Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state. Neufeld EF; Liebaers I; Lim TW Adv Exp Med Biol; 1976; 68():253-60. PubMed ID: 820168 [No Abstract] [Full Text] [Related]
17. 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. PubMed ID: 10671065 [TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 12655569 [TBL] [Abstract][Full Text] [Related]
19. Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. Lin SP; Chang JH; Lee-Chen GJ; Lin DS; Lin HY; Chuang CK Clin Chim Acta; 2006 Jul; 369(1):29-34. PubMed ID: 16480701 [TBL] [Abstract][Full Text] [Related]
20. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Wang D; Wood T; Sadilek M; Scott CR; Turecek F; Gelb MH Clin Chem; 2007 Jan; 53(1):137-40. PubMed ID: 17082248 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]