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 *

279 related articles for article (PubMed ID: 21061399)

  • 1. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
    Valstar MJ; Neijs S; Bruggenwirth HT; Olmer R; Ruijter GJ; Wevers RA; van Diggelen OP; Poorthuis BJ; Halley DJ; Wijburg FA
    Ann Neurol; 2010 Dec; 68(6):876-87. PubMed ID: 21061399
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.
    Perkins KJ; Muller V; Weber B; Hopwood JJ
    Mol Genet Metab; 2001 Aug; 73(4):306-12. PubMed ID: 11509012
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
    Bunge S; Ince H; Steglich C; Kleijer WJ; Beck M; Zaremba J; van Diggelen OP; Weber B; Hopwood JJ; Gal A
    Hum Mutat; 1997; 10(6):479-85. PubMed ID: 9401012
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.
    Scott HS; Blanch L; Guo XH; Freeman C; Orsborn A; Baker E; Sutherland GR; Morris CP; Hopwood JJ
    Nat Genet; 1995 Dec; 11(4):465-7. PubMed ID: 7493035
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
    Ruijter GJ; Valstar MJ; van de Kamp JM; van der Helm RM; Durand S; van Diggelen OP; Wevers RA; Poorthuis BJ; Pshezhetsky AV; Wijburg FA
    Mol Genet Metab; 2008 Feb; 93(2):104-11. PubMed ID: 18024218
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
    Jansen AC; Cao H; Kaplan P; Silver K; Leonard G; De Meirleir L; Lissens W; Liebaers I; Veilleux M; Andermann F; Hegele RA; Andermann E
    Arch Neurol; 2007 Nov; 64(11):1629-34. PubMed ID: 17998446
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
    Knottnerus SJG; Nijmeijer SCM; IJlst L; Te Brinke H; van Vlies N; Wijburg FA
    Ann Neurol; 2017 Nov; 82(5):686-696. PubMed ID: 29023963
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).
    Fischer A; Carmichael KP; Munnell JF; Jhabvala P; Thompson JN; Matalon R; Jezyk PF; Wang P; Giger U
    Pediatr Res; 1998 Jul; 44(1):74-82. PubMed ID: 9667374
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
    Montfort M; Vilageliu L; Garcia-Giralt N; Guidi S; Coll MJ; Chabás A; Grinberg D
    Hum Mutat; 1998; 12(4):274-9. PubMed ID: 9744479
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Embryonic stem cell-derived glial precursors as a vehicle for sulfamidase production in the MPS-IIIA mouse brain.
    Robinson AJ; Zhao G; Rathjen J; Rathjen PD; Hutchinson RG; Eyre HJ; Hemsley KM; Hopwood JJ
    Cell Transplant; 2010; 19(8):985-98. PubMed ID: 20350350
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
    Meyer A; Kossow K; Gal A; Mühlhausen C; Ullrich K; Braulke T; Muschol N
    Pediatrics; 2007 Nov; 120(5):e1255-61. PubMed ID: 17938166
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Purification and characterization of recombinant murine sulfamidase.
    Gliddon BL; Yogalingam G; Hopwood JJ
    Mol Genet Metab; 2004 Nov; 83(3):239-45. PubMed ID: 15542395
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
    Beesley CE; Young EP; Vellodi A; Winchester BG
    J Med Genet; 2000 Sep; 37(9):704-7. PubMed ID: 11182930
    [No Abstract]   [Full Text] [Related]  

  • 18. Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
    Bunge S; Knigge A; Steglich C; Kleijer WJ; van Diggelen OP; Beck M; Gal A
    J Med Genet; 1999 Jan; 36(1):28-31. PubMed ID: 9950362
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice.
    Lau AA; Crawley AC; Hopwood JJ; Hemsley KM
    Behav Brain Res; 2008 Aug; 191(1):130-6. PubMed ID: 18453006
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA).
    Hemsley KM; Hopwood JJ
    Behav Brain Res; 2005 Mar; 158(2):191-9. PubMed ID: 15698885
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.