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Items: 1 to 20 of 113

1.

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.

Verhoeven WM, Csepán R, Marcelis CL, Lefeber DJ, Egger JI, Tuinier S.

Acta Psychiatr Scand. 2010 Aug;122(2):162-5. doi: 10.1111/j.1600-0447.2009.01521.x. Epub 2009 Dec 23.

PMID:
20040070
2.

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment.

Moog U.

Acta Psychiatr Scand. 2010 Aug;122(2):166. doi: 10.1111/j.1600-0447.2009.01520.x. Epub 2009 Dec 22. No abstract available.

PMID:
20040071
3.
4.

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 15;145C(3):293-301. Review.

PMID:
17640047
5.

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.

Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P.

Clin Genet. 1979 Jun;15(6):500-4.

PMID:
157237
6.

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE.

Eur J Hum Genet. 2012 Jan;20(1):58-63. doi: 10.1038/ejhg.2011.126. Epub 2011 Jun 29.

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. Chinese.

PMID:
19099774
8.

Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B).

Zafeiriou DI, Savvopoulou-Augoustidou PA, Sewell A, Papadopoulou F, Badouraki M, Vargiami E, Gombakis NP, Katzos GS.

Brain Dev. 2001 Oct;23(6):385-9.

PMID:
11578848
9.

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
10.
11.

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.

PMID:
14727810
12.

Prenatal tests for Sanfilippo disease type B in four pregnancies.

Mossman J, Young EP, Patrick AD, Fensom AH, Ellis M, Benson PF, Der Kaloustian VM.

Prenat Diagn. 1983 Oct;3(4):347-50.

PMID:
6419220
13.

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
14.

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG.

J Inherit Metab Dis. 2005;28(5):759-67.

PMID:
16151907
15.

The laboratory diagnosis of Sanfilippo disease.

Whiteman P, Young E.

Clin Chim Acta. 1977 Apr 1;76(1):139-47.

PMID:
404099
16.

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.

17.

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
18.

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
19.

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
20.

Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B.

Yu WH, Zhao KW, Ryazantsev S, Rozengurt N, Neufeld EF.

Mol Genet Metab. 2000 Dec;71(4):573-80.

PMID:
11136549

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