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 *

130 related articles for article (PubMed ID: 30593151)

  • 1. A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.
    Li X; Xiao R; Chen B; Yang G; Zhang X; Fu Z; Fu J; Zhuang M; Huang Y
    Medicine (Baltimore); 2018 Dec; 97(52):e13758. PubMed ID: 30593151
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
    Meyer A; Kossow K; Gal A; Steglich C; Mühlhausen C; Ullrich K; Braulke T; Muschol N
    Hum Mutat; 2008 May; 29(5):770. PubMed ID: 18407553
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An Engineered
    Douek AM; Amiri Khabooshan M; Henry J; Stamatis SA; Kreuder F; Ramm G; Änkö ML; Wlodkowic D; Kaslin J
    Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34073041
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
    Yogalingam G; Hopwood JJ
    Hum Mutat; 2001 Oct; 18(4):264-81. PubMed ID: 11668611
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.
    Webber DL; Choo A; Hewson LJ; Trim PJ; Snel MF; Hopwood JJ; Richards RI; Hemsley KM; O'Keefe LV
    Exp Neurol; 2018 May; 303():38-47. PubMed ID: 29408731
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
    De Falco A; Karali M; Criscuolo C; Testa F; Barillari MR; Scarpato M; Gaudieri V; Cuocolo A; Russo A; Nigro V; Simonelli F; Banfi S; Brunetti-Pierri N
    Am J Med Genet A; 2024 May; 194(5):e63517. PubMed ID: 38149346
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].
    Zhang WM; Shi HP; Meng Y; Li BT; Qiu ZQ; Liu JT
    Zhonghua Er Ke Za Zhi; 2008 Jun; 46(6):407-10. PubMed ID: 19099774
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
    Fraldi A; Hemsley K; Crawley A; Lombardi A; Lau A; Sutherland L; Auricchio A; Ballabio A; Hopwood JJ
    Hum Mol Genet; 2007 Nov; 16(22):2693-702. PubMed ID: 17725987
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.
    Tanwar H; Kumar DT; Doss CGP; Zayed H
    Metab Brain Dis; 2019 Dec; 34(6):1577-1594. PubMed ID: 31385193
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
    Ouesleti S; Coutinho MF; Ribeiro I; Miled A; Mosbahi DS; Alves S
    World J Pediatr; 2017 Aug; 13(4):374-380. PubMed ID: 28101780
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy.
    Chen Y; Zheng S; Tecedor L; Davidson BL
    Mol Ther; 2018 Apr; 26(4):1118-1126. PubMed ID: 29503202
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
    Bekri S; Armana G; De Ricaud D; Osenda M; Maire I; Van Obberghen E; Froissart R
    J Inherit Metab Dis; 2005; 28(4):601-2. PubMed ID: 15902564
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).
    Ugrinov KG; Freed SD; Thomas CL; Lee SW
    PLoS One; 2015; 10(3):e0121511. PubMed ID: 25807448
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
    Emre S; Terzioglu M; Tokatli A; Coskun T; Ozalp I; Weber B; Hopwood JJ
    Hum Mutat; 2002 Feb; 19(2):184-5. PubMed ID: 11793481
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs.
    Yogalingam G; Pollard T; Gliddon B; Jolly RD; Hopwood JJ
    Genomics; 2002 Feb; 79(2):150-3. PubMed ID: 11829484
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse.
    Boado RJ; Lu JZ; Hui EK; Pardridge WM
    Mol Pharm; 2018 Feb; 15(2):602-608. PubMed ID: 29251941
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
    Lau AA; King BM; Thorsen CL; Hassiotis S; Beard H; Trim PJ; Whyte LS; Tamang SJ; Duplock SK; Snel MF; Hopwood JJ; Hemsley KM
    J Inherit Metab Dis; 2017 Sep; 40(5):715-724. PubMed ID: 28451919
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
    Sidhu NS; Schreiber K; Pröpper K; Becker S; Usón I; Sheldrick GM; Gärtner J; Krätzner R; Steinfeld R
    Acta Crystallogr D Biol Crystallogr; 2014 May; 70(Pt 5):1321-35. PubMed ID: 24816101
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
    Muschol N; Pohl S; Meyer A; Gal A; Ullrich K; Braulke T
    Am J Med Genet A; 2011 Jul; 155A(7):1634-9. PubMed ID: 21671382
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
    Muschol N; Storch S; Ballhausen D; Beesley C; Westermann JC; Gal A; Ullrich K; Hopwood JJ; Winchester B; Braulke T
    Hum Mutat; 2004 Jun; 23(6):559-66. PubMed ID: 15146460
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.