BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 7856659)

  • 1. Sanfilippo syndrome type A in two adult sibs.
    Lindor NM; Hoffman A; O'Brien JF; Hanson NP; Thompson JN
    Am J Med Genet; 1994 Nov; 53(3):241-4. PubMed ID: 7856659
    [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. Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period.
    Malm G; Månsson JE
    Acta Paediatr; 2010 Aug; 99(8):1253-7. PubMed ID: 20337777
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies.
    McDowell GA; Cowan TM; Blitzer MG; Greene CL
    Am J Med Genet; 1993 Nov; 47(7):1092-5. PubMed ID: 7507293
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?
    Moog U; van Mierlo I; van Schrojenstein Lantman-de Valk HM; Spaapen L; Maaskant MA; Curfs LM
    Am J Med Genet C Semin Med Genet; 2007 Aug; 145C(3):293-301. PubMed ID: 17640047
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy].
    Bolodár A; Török O; Szabó M; Váradi V; Papp Z
    Orv Hetil; 1989 Jan; 130(5):233-4. PubMed ID: 2492654
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Syndromes 4. Sanfilippo syndrome].
    Visser A; Vissink A
    Ned Tijdschr Tandheelkd; 1998 Sep; 105(9):324-5. PubMed ID: 11928441
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Hyperactivity and behavioral disorders in Sanfilippo A (mucopolysaccharidosis type IIIA)--case report and review of the literature].
    Wolańczyk T; Banaszkiewicz A; Mierzewska H; Czartoryska B; Zdziennicka E
    Psychiatr Pol; 2000; 34(5):831-7. PubMed ID: 11202024
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
    Fedele AO; Filocamo M; Di Rocco M; Sersale G; Lübke T; di Natale P; Cosma MP; Ballabio A
    Hum Mutat; 2007 May; 28(5):523. PubMed ID: 17397050
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Physicochemical hair conformation of patients with Sanfilippo disease type IIIA.
    Charan RK; Nauer G; Wagner U; Klabuschnig A; Lubec G
    Padiatr Padol; 1986; 21(3):249-56. PubMed ID: 3095768
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.
    Concolino D; Muzzi G; Pisaturo L; Piccirillo A; Di Natale P; Strisciuglio P
    Eur J Med Genet; 2008; 51(5):466-71. PubMed ID: 18586597
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis of Sanfilippo syndrome type A by early amniocentesis.
    Thompson JN; Huffman P; McConkie-Rosell A; Hessling J
    Biochem Mol Biol Int; 1993 Apr; 29(5):793-7. PubMed ID: 8508132
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain.
    Gografe SI; Garbuzova-Davis S; Willing AE; Haas K; Chamizo W; Sanberg PR
    Comp Med; 2003 Dec; 53(6):622-32. PubMed ID: 14727810
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.