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Items: 19

1.

Epidemiology of Sanfilippo syndrome: results of a systematic literature review.

Zelei T, Csetneki K, Vokó Z, Siffel C.

Orphanet J Rare Dis. 2018 Apr 10;13(1):53. doi: 10.1186/s13023-018-0796-4. Review.

2.

Incidence and Factors Associated with Burnout in Anesthesiology: A Systematic Review.

Sanfilippo F, Noto A, Foresta G, Santonocito C, Palumbo GJ, Arcadipane A, Maybauer DM, Maybauer MO.

Biomed Res Int. 2017;2017:8648925. doi: 10.1155/2017/8648925. Epub 2017 Nov 28. Review.

3.

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Escolar ML, Jones SA, Shapiro EG, Horovitz DDG, Lampe C, Amartino H.

Mol Genet Metab. 2017 Dec;122S:35-40. doi: 10.1016/j.ymgme.2017.09.010. Epub 2017 Sep 27. Review.

4.

Treatment of brain disease in the mucopolysaccharidoses.

Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R.

Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Review.

5.

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.

Coutinho MF, Santos JI, Matos L, Alves S.

Diseases. 2016 Nov 9;4(4). pii: E33. doi: 10.3390/diseases4040033. Review.

6.

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.

Whiteman DA, Kimura A.

Drug Des Devel Ther. 2017 Aug 23;11:2467-2480. doi: 10.2147/DDDT.S139601. eCollection 2017. Review.

7.

Anesthesia for patients with mucopolysaccharidoses: Comprehensive review of the literature with emphasis on airway management.

Clark BM, Sprung J, Weingarten TN, Warner ME.

Bosn J Basic Med Sci. 2018 Feb 20;18(1):1-7. doi: 10.17305/bjbms.2017.2201. Review.

8.

Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature.

Janzen D, Delaney KA, Shapiro EG.

Mol Genet Metab. 2017 Jun;121(2):57-69. doi: 10.1016/j.ymgme.2017.05.005. Epub 2017 May 8. Review.

9.

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E.

Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6.

10.

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.

Coutinho MF, Santos JI, Alves S.

Int J Mol Sci. 2016 Jul 4;17(7). pii: E1065. doi: 10.3390/ijms17071065. Review. Erratum in: Int J Mol Sci. 2017 Jan 17;18(1):.

11.

Sanfilippo syndrome: causes, consequences, and treatments.

Fedele AO.

Appl Clin Genet. 2015 Nov 25;8:269-81. doi: 10.2147/TACG.S57672. eCollection 2015. Review.

12.

[Mucopolysaccharidosis: clinical features, diagnosis and management].

Suarez-Guerrero JL, Gómez Higuera PJ, Arias Flórez JS, Contreras-García GA.

Rev Chil Pediatr. 2016 Jul-Aug;87(4):295-304. doi: 10.1016/j.rchipe.2015.10.004. Epub 2015 Nov 21. Review. Spanish.

13.

Crowdfunding for Personalized Medicine Research.

Fumagalli DC, Gouw AM.

Yale J Biol Med. 2015 Nov 24;88(4):413-4. eCollection 2015 Dec. Review.

14.

Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature.

Adorno A, Alafaci C, Sanfilippo F, Cafarella D, Scordino M, Granata F, Grasso G, Salpietro FM.

J Med Case Rep. 2015 Oct 4;9:229. doi: 10.1186/s13256-015-0700-y. Review.

15.

Gene therapy for neurologic manifestations of mucopolysaccharidoses.

Wolf DA, Banerjee S, Hackett PB, Whitley CB, McIvor RS, Low WC.

Expert Opin Drug Deliv. 2015 Feb;12(2):283-96. doi: 10.1517/17425247.2015.966682. Epub 2014 Dec 16. Review.

16.

Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier.

Aronovich EL, Hackett PB.

Mol Genet Metab. 2015 Feb;114(2):83-93. doi: 10.1016/j.ymgme.2014.09.011. Epub 2014 Oct 7. Review.

17.

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR.

Br J Radiol. 2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14. Review. Erratum in: Br J Radiol. 2014 Mar;87(1035):20149002.

18.

GLB1-Related Disorders.

Regier DS, Tifft CJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Oct 17.

19.

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.

Wijburg FA, Węgrzyn G, Burton BK, Tylki-Szymańska A.

Acta Paediatr. 2013 May;102(5):462-70. doi: 10.1111/apa.12169. Epub 2013 Feb 6. Review.

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