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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 22227323)

  • 41. Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.
    Sista RS; Wang T; Wu N; Graham C; Eckhardt A; Winger T; Srinivasan V; Bali D; Millington DS; Pamula VK
    Clin Chim Acta; 2013 Sep; 424():12-8. PubMed ID: 23660237
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.
    Malmgren H; Carlberg BM; Pettersson U; Bondeson ML
    Genomics; 1995 Sep; 29(1):291-3. PubMed ID: 8530090
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease.
    Dairaku T; Iwamoto T; Nishimura M; Endo M; Ohashi T; Eto Y
    Mol Genet Metab; 2014 Feb; 111(2):193-6. PubMed ID: 24295952
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Sequence of the human iduronate 2-sulfatase (IDS) gene.
    Wilson PJ; Meaney CA; Hopwood JJ; Morris CP
    Genomics; 1993 Sep; 17(3):773-5. PubMed ID: 8244397
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
    Beck M; Steglich C; Zabel B; Dahl N; Schwinger E; Hopwood JJ; Gal A
    Am J Med Genet; 1992 Sep; 44(1):100-3. PubMed ID: 1355630
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Hunter syndrome follow-up after 1 year of enzyme-replacement therapy.
    Puiu M; Chirita-Emandi A; Dumitriu S; Arghirescu S
    BMJ Case Rep; 2013 Jan; 2013():. PubMed ID: 23307460
    [TBL] [Abstract][Full Text] [Related]  

  • 47. [Mucopolysaccharidosis type II (Hunter syndrome)].
    Sukegawa K; Tomatsu S; Kondo N; Orii T
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):435-8. PubMed ID: 9645102
    [No Abstract]   [Full Text] [Related]  

  • 48. Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II.
    Hoshina H; Shimada Y; Higuchi T; Kobayashi H; Ida H; Ohashi T
    Mol Genet Metab; 2018 Feb; 123(2):118-122. PubMed ID: 29289480
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
    Zhong L; Gao X; Wang Y; Qiu W; Han L; Gu X; Zhang H
    Clin Genet; 2023 Jun; 103(6):655-662. PubMed ID: 36945845
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Heterozygote detection in Hunter syndrome.
    Zlotogora J; Bach G
    Am J Med Genet; 1984 Mar; 17(3):661-5. PubMed ID: 6424473
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.
    Wei X; Jin F; Ye Y; Xu C; Qu N; Ju X; Yi X
    Clin Chim Acta; 2011 Nov; 412(23-24):2340-2. PubMed ID: 21910981
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
    Sukegawa K; Tomatsu S; Fukao T; Iwata H; Song XQ; Yamada Y; Fukuda S; Isogai K; Orii T
    Hum Mutat; 1995; 6(2):136-43. PubMed ID: 7581397
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Idursulfase in Hunter syndrome treatment.
    Zareba G
    Drugs Today (Barc); 2007 Nov; 43(11):759-67. PubMed ID: 18174963
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study.
    Brown FR; Hall CW; Neufeld EF; Munoz LL; Braine H; Andrzejewski S; Camargo EE; Mark SA; Richard JM; Moser HW
    Am J Med Genet; 1982 Nov; 13(3):309-18. PubMed ID: 6817638
    [TBL] [Abstract][Full Text] [Related]  

  • 56. A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.
    Gort L; Chabás A; Coll MJ
    J Inherit Metab Dis; 1999 Oct; 22(7):844. PubMed ID: 10518288
    [No Abstract]   [Full Text] [Related]  

  • 57. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
    Timms KM; Huckett LE; Belmont JW; Shapira SK; Gibbs RA
    Hum Mutat; 1998; 11(2):121-6. PubMed ID: 9482575
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
    Hartog C; Fryer A; Upadhyaya M
    Hum Mutat; 1999; 14(1):87. PubMed ID: 10447264
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
    Chiong MA; Canson DM; Abacan MA; Baluyot MM; Cordero CP; Silao CL
    Orphanet J Rare Dis; 2017 Jan; 12(1):7. PubMed ID: 28077157
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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. PubMed ID: 21108396
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.