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Items: 1 to 20 of 134

1.

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Ouesleti S, Brunel V, Ben Turkia H, Dranguet H, Miled A, Miladi N, Ben Dridi MF, Lavoinne A, Saugier-Veber P, Bekri S.

Clin Chim Acta. 2011 Nov 20;412(23-24):2326-31. doi: 10.1016/j.cca.2011.08.032. Epub 2011 Sep 2.

PMID:
21910976
2.
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.

PMID:
11793481
4.

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
5.

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 Jan 19. doi: 10.1007/s12519-017-0005-x. [Epub ahead of print]

PMID:
28101780
6.

[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. Chinese.

PMID:
19099774
7.

Glycosaminoglycans and mucopolysaccharidosis type III.

Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G.

Front Biosci (Landmark Ed). 2016 Jun 1;21:1393-409.

PMID:
27100513
8.

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV.

Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Review.

PMID:
19479962
9.

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.

11.

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.

12.

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
13.

A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs.

Ellinwood NM, Wang P, Skeen T, Sharp NJ, Cesta M, Decker S, Edwards NJ, Bublot I, Thompson JN, Bush W, Hardam E, Haskins ME, Giger U.

J Inherit Metab Dis. 2003;26(5):489-504.

PMID:
14518829
14.

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

Fedele AO, Hopwood JJ.

Hum Mutat. 2010 Jul;31(7):E1574-86. doi: 10.1002/humu.21286.

PMID:
20583299
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.

PMID:
17998446
16.

[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].

Khedhiri S, Chkioua L, Ferchichi S, Bouzidi H, Haj Khelil A, Ben Mansour R, Kassab A, M'dallah S, Chaabouni M, Jrad T, Ben Chibani J, Miled A, Laradi S.

Ann Biol Clin (Paris). 2007 Jan-Feb;65(1):59-63. French.

17.

Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.

Tang J, Pan J, Guo Y, Ai Y, Jiang W, Du M, Fang Q.

Clin Chim Acta. 2013 Apr 18;419:33-8. doi: 10.1016/j.cca.2013.01.009. Epub 2013 Feb 1.

PMID:
23380547
18.

Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B.

Aronovich EL, Johnston JM, Wang P, Giger U, Whitley CB.

Genomics. 2001 Jun 15;74(3):299-305.

PMID:
11414757
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. doi: 10.1002/ajmg.a.34053. Epub 2011 Jun 10.

PMID:
21671382
20.

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.

Mol Genet Metab. 2006 Mar;87(3):213-8.

PMID:
16378744

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