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Items: 1 to 20 of 322

1.

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. doi: 10.1002/humu.20738.

PMID:
18407553
2.
3.

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. doi: 10.1002/ajmg.a.34053. Epub 2011 Jun 10.

PMID:
21671382
4.

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. Epub 2007 Oct 15.

PMID:
17938166
5.

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.

PMID:
11793481
7.

Molecular defects in Sanfilippo syndrome type A.

Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ.

Hum Mol Genet. 1997 May;6(5):787-91.

8.

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.

PMID:
7493035
9.

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.

PMID:
15146460
10.

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.

PMID:
11829484
11.

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ.

Eur J Hum Genet. 1999 Jan;7(1):34-44.

12.

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.

PMID:
17397050
13.

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.

PMID:
17998446
14.

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ.

Hum Mol Genet. 1997 Sep;6(9):1573-9.

15.

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 15;16(22):2693-702. Epub 2007 Aug 27.

16.

Analysis of Sanfilippo A gene mutations in a large pedigree.

Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A.

Clin Genet. 2003 Apr;63(4):314-8.

PMID:
12702166
17.

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ.

J Inherit Metab Dis. 1998 Jun;21(4):416-22.

PMID:
9700599
18.

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. doi: 10.1002/ana.22092.

PMID:
21061399
19.

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P.

Am J Med Genet A. 2005 Feb 15;133A(1):85-9.

PMID:
15637719
20.

Sanfilippo syndrome: a mini-review.

Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA.

J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. Review.

PMID:
18392742
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