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Items: 11

1.
Epidemiology of Sanfilippo syndrome: results of a systematic literature review
Tamás Zelei, Kata Csetneki, Zoltán Vokó, Csaba Siffel
Orphanet J Rare Dis. 2018; 13: 53. Published online 2018 Apr 10. doi: 10.1186/s13023-018-0796-4
PMCID:
PMC5891921
AbstractArticlePDF–517K
2.
Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management
Brittney M. Clark, Juraj Sprung, Toby N. Weingarten, Mary E. Warner
Bosn J Basic Med Sci. 2018 Feb; 18(1): 1–7. doi: 10.17305/bjbms.2017.2201
PMCID:
PMC5826667
AbstractArticlePDF–481K
3.
Mortality in patients with Sanfilippo syndrome
Christine Lavery, Chris J. Hendriksz, Simon A. Jones
Orphanet J Rare Dis. 2017; 12: 168. Published online 2017 Oct 23. doi: 10.1186/s13023-017-0717-y
PMCID:
PMC5654004
AbstractArticlePDF–505K
4.
Molecular Genetics and Metabolism
Shaukat A. Khan, Hira Peracha, Diana Ballhausen, Alfred Wiesbauer, Marianne Rohrbach, Matthias Gautschi, Robert W. Mason, Roberto Giugliani, Yasuyuki Suzuki, Kenji E. Orii, Tadao Orii, Shunji Tomatsu
Mol Genet Metab. Author manuscript; available in PMC 2018 Jul 1.
Published in final edited form as: Mol Genet Metab. 2017 Jul; 121(3): 227–240. Published online 2017 May 26. doi: 10.1016/j.ymgme.2017.05.016
PMCID:
PMC5653283
AbstractArticlePDF–671K
5.
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke
Eur J Hum Genet. 2017 Feb; 25(2): 253–256. Published online 2016 Nov 9. doi: 10.1038/ejhg.2016.149
PMCID:
PMC5255949
AbstractArticlePDF–1.0M
6.
A prospective natural history study of Mucopolysaccharidosis Type IIIA
Elsa G. Shapiro, Igor Nestrasil, Kathleen A. Delaney, Kyle Rudser, Victor Kovac, Nitin Nair, Charles W. Richard, III, Patrick Haslett, Chester B. Whitley
J Pediatr. Author manuscript; available in PMC 2017 Mar 1.
Published in final edited form as: J Pediatr. 2016 Mar; 170: 278–287.e4. Published online 2016 Jan 16. doi: 10.1016/j.jpeds.2015.11.079
PMCID:
PMC4769976
AbstractArticlePDF–2.0M
7.
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome
Isaac Canals, Noelia Benetó, Mónica Cozar, Lluïsa Vilageliu, Daniel Grinberg
Sci Rep. 2015; 5: 13654. Published online 2015 Sep 8. doi: 10.1038/srep13654
PMCID:
PMC4561882
AbstractArticlePDF–967K
8.
Mucopolysaccharidosis Type IIIA presents as a variant of Klüver–Bucy syndrome
Michael Potegal, Brianna Yund, Kyle Rudser, Alia Ahmed, Kate Delaney, Igor Nestrasil, Chester B. Whitley, Elsa G. Shapiro
J Clin Exp Neuropsychol. Author manuscript; available in PMC 2014 Jun 8.
Published in final edited form as: J Clin Exp Neuropsychol. 2013; 35(6): 608–616. Published online 2013 Jun 8. doi: 10.1080/13803395.2013.804035
PMCID:
PMC3931576
AbstractArticlePDF–105K
9.
Assessment of Sleep in Children with Mucopolysaccharidosis Type III
Louise Victoria Mahon, Michelle Lomax, Sheena Grant, Elaine Cross, Dougal Julian Hare, James Ed Wraith, Simon Jones, Brian Bigger, Kia Langford-Smith, Maria Canal
PLoS One. 2014; 9(2): e84128. Published online 2014 Feb 4. doi: 10.1371/journal.pone.0084128
PMCID:
PMC3913580
AbstractArticlePDF–947K
10.
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
Marlies J. Valstar, Hennie T. Bruggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. Poorthuis, Dicky J. Halley, Frits A. Wijburg
J Inherit Metab Dis. 2010; 33(6): 759–767. Published online 2010 Sep 18. doi: 10.1007/s10545-010-9199-y
PMCID:
PMC2992652
AbstractArticlePDF–182K
11.
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
H G Zhao, E L Aronovich, C B Whitley
Am J Hum Genet. 1998 Jan; 62(1): 53–63. doi: 10.1086/301682
PMCID:
PMC1376807
Abstract

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