136 related articles for article (PubMed ID: 10493987)
1. Bone marrow transplantation in a Hunter patient with P266H mutation.
Coppa GV; Gabrielli O; Cordiali R; Villani GR; Di Natale P
Int J Mol Med; 1999 Oct; 4(4):433-6. PubMed ID: 10493987
[TBL] [Abstract][Full Text] [Related]
2. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation.
Li P; Thompson JN; Hug G; Huffman P; Chuck G
Am J Med Genet; 1996 Sep; 64(4):531-5. PubMed ID: 8870917
[TBL] [Abstract][Full Text] [Related]
3. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
Karsten S; Voskoboeva E; Tishkanina S; Pettersson U; Krasnopolskaja X; Bondeson ML
Hum Genet; 1998 Dec; 103(6):732-5. PubMed ID: 9921913
[TBL] [Abstract][Full Text] [Related]
4. Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
Balzano N; Villani GR; Grosso M; Izzo P; Di Natale P
Hum Mutat; 1998; 11(4):333. PubMed ID: 10215411
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. 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; 6():42. PubMed ID: 21605424
[TBL] [Abstract][Full Text] [Related]
9. A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
Chou YY; Chao SC; Kuo PL; Lin SJ
J Formos Med Assoc; 2005 Apr; 104(4):273-5. PubMed ID: 15909065
[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. 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]
12. 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. PubMed ID: 22246721
[TBL] [Abstract][Full Text] [Related]
13. Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Sukegawa-Hayasaka K; Kato Z; Nakamura H; Tomatsu S; Fukao T; Kuwata K; Orii T; Kondo N
J Inherit Metab Dis; 2006 Dec; 29(6):755-61. PubMed ID: 17091340
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 25044788
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 1303211
[TBL] [Abstract][Full Text] [Related]
16. Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
Narayanan DL; Srivastava P; Mandal K; Gambhir PS; Phadke SR
Indian Pediatr; 2016 Feb; 53(2):134-6. PubMed ID: 26897145
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Bonuccelli G; Di Natale P; Corsolini F; Villani G; Regis S; Filocamo M
Biochim Biophys Acta; 2001 Nov; 1537(3):233-8. PubMed ID: 11731225
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
Bondeson ML; Malmgren H; Dahl N; Carlberg BM; Pettersson U
Eur J Hum Genet; 1995; 3(4):219-27. PubMed ID: 8528670
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
