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Items: 1 to 20 of 71

1.

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts.

de Carvalho TG, Schuh R, Pasqualim G, Pellenz FM, Filippi-Chiela EC, Giugliani R, Baldo G, Matte U.

Gene. 2018 Dec 15;678:33-37. doi: 10.1016/j.gene.2018.08.004. Epub 2018 Aug 3.

PMID:
30081189
2.

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

Chkioua L, Boudabous H, Jaballi I, Grissa O, Turkia HB, Tebib N, Laradi S.

Diagn Pathol. 2018 May 29;13(1):35. doi: 10.1186/s13000-018-0710-3.

3.

Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I.

Pardridge WM, Boado RJ, Giugliani R, Schmidt M.

BioDrugs. 2018 Apr;32(2):169-176. doi: 10.1007/s40259-018-0264-7.

PMID:
29442294
4.

Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice.

Gonzalez EA, Martins GR, Tavares AMV, Viegas M, Poletto E, Giugliani R, Matte U, Baldo G.

Life Sci. 2018 Mar 1;196:102-109. doi: 10.1016/j.lfs.2018.01.020. Epub 2018 Jan 31.

PMID:
29366749
5.

The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).

Javed A, Aslam T, Jones SA, Mercer J, Tyler K, Church H, Ghosh A, Wynn R, Sornalingam K, Ashworth J.

Acta Ophthalmol. 2018 Aug;96(5):494-498. doi: 10.1111/aos.13627. Epub 2017 Dec 14.

PMID:
29240299
6.

Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers.

Schuh RS, de Carvalho TG, Giugliani R, Matte U, Baldo G, Teixeira HF.

Eur J Pharm Biopharm. 2018 Jan;122:158-166. doi: 10.1016/j.ejpb.2017.10.017. Epub 2017 Nov 6.

PMID:
29122734
7.

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Tebani A, Schmitz-Afonso I, Abily-Donval L, Héron B, Piraud M, Ausseil J, Brassier A, De Lonlay P, Zerimech F, Vaz FM, Gonzalez BJ, Marret S, Afonso C, Bekri S.

Clin Chim Acta. 2017 Dec;475:7-14. doi: 10.1016/j.cca.2017.09.024. Epub 2017 Oct 2.

8.

Clinical features of Mexican patients with Mucopolysaccharidosis type I.

Alonzo-Rojo A, García-Ortiz JE, Ortiz-Aranda M, Gallegos-Arreola MP, Figuera-Villanueva LE.

Genet Mol Res. 2017 Sep 21;16(3). doi: 10.4238/gmr16032602.

PMID:
28973713
9.

Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?

Duarte AJ, Ribeiro D, Oliveira P, Amaral O.

Arch Med Res. 2017 Apr;48(3):263-269. doi: 10.1016/j.arcmed.2017.04.001.

PMID:
28923328
10.

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

Dornelles AD, Artigalás O, da Silva AA, Ardila DLV, Alegra T, Pereira TV, Vairo FPE, Schwartz IVD.

PLoS One. 2017 Aug 31;12(8):e0184065. doi: 10.1371/journal.pone.0184065. eCollection 2017. Review.

11.

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Ghosh A, Mercer J, Mackinnon S, Yue WW, Church H, Beesley CE, Broomfield A, Jones SA, Tylee K.

Hum Mutat. 2017 Nov;38(11):1555-1568. doi: 10.1002/humu.23301. Epub 2017 Aug 17.

PMID:
28752568
12.

Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation.

Kuiper GA, van Hasselt PM, Boelens JJ, Wijburg FA, Langereis EJ.

Mol Genet Metab. 2017 Sep;122(1-2):86-91. doi: 10.1016/j.ymgme.2017.05.009. Epub 2017 May 18.

PMID:
28684085
13.

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Ou L, Przybilla MJ, Whitley CB.

Orphanet J Rare Dis. 2017 Jul 4;12(1):125. doi: 10.1186/s13023-017-0678-1.

14.

Open issues in Mucopolysaccharidosis type I-Hurler.

Parini R, Deodato F, Di Rocco M, Lanino E, Locatelli F, Messina C, Rovelli A, Scarpa M.

Orphanet J Rare Dis. 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9. Review.

15.

An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene.

Tanwar H, George Priya Doss C.

J Cell Biochem. 2018 Jan;119(1):555-565. doi: 10.1002/jcb.26214. Epub 2017 Jul 31.

PMID:
28608934
16.

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.

Penati R, Fumagalli F, Calbi V, Bernardo ME, Aiuti A.

J Inherit Metab Dis. 2017 Jul;40(4):543-554. doi: 10.1007/s10545-017-0052-4. Epub 2017 May 30. Review.

17.

Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I.

Belur LR, Temme A, Podetz-Pedersen KM, Riedl M, Vulchanova L, Robinson N, Hanson LR, Kozarsky KF, Orchard PJ, Frey WH 2nd, Low WC, McIvor RS.

Hum Gene Ther. 2017 Jul;28(7):576-587. doi: 10.1089/hum.2017.187. Epub 2017 Apr 20.

18.

Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.

Pérez-López J, Morales-Conejo M, López-Rodríguez M, Hermida-Ameijeiras Á, Moltó-Abad M.

Mol Genet Metab. 2017 Jun;121(2):138-149. doi: 10.1016/j.ymgme.2017.04.004. Epub 2017 Apr 9. Review.

PMID:
28410878
19.

Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model.

Fraga M, de Carvalho TG, Bidone J, Schuh RS, Matte U, Teixeira HF.

Int J Nanomedicine. 2017 Mar 15;12:2061-2067. doi: 10.2147/IJN.S121558. eCollection 2017.

20.

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.

Nestrasil I, Shapiro E, Svatkova A, Dickson P, Chen A, Wakumoto A, Ahmed A, Stehel E, McNeil S, Gravance C, Maher E.

Am J Med Genet A. 2017 Mar;173(3):780-783. doi: 10.1002/ajmg.a.38073.

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