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Items: 1 to 20 of 117

1.

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies.

Parenti G, Andria G.

Curr Pharm Biotechnol. 2011 Jun;12(6):902-15. doi: 1389-2010/11 $58.00+.00.

PMID:
21235442
2.

Salmeterol enhances the cardiac response to gene therapy in Pompe disease.

Han SO, Li S, Koeberl DD.

Mol Genet Metab. 2016 May;118(1):35-40. doi: 10.1016/j.ymgme.2016.03.006. Epub 2016 Mar 18.

3.

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.

Yi H, Sun T, Armstrong D, Borneman S, Yang C, Austin S, Kishnani PS, Sun B.

J Mol Med (Berl). 2017 May;95(5):513-521. doi: 10.1007/s00109-017-1505-9. Epub 2017 Feb 2.

PMID:
28154884
4.

New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.

Kishnani PS, Beckemeyer AA.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114-24. Review.

PMID:
25345093
5.

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.

Koeberl DD, Li S, Dai J, Thurberg BL, Bali D, Kishnani PS.

Mol Genet Metab. 2012 Feb;105(2):221-7. doi: 10.1016/j.ymgme.2011.11.005. Epub 2011 Nov 11.

6.

Synergistic Efficacy from Gene Therapy with Coreceptor Blockade and a β2-Agonist in Murine Pompe Disease.

Han SO, Li S, Bird A, Koeberl D.

Hum Gene Ther. 2015 Nov;26(11):743-50. doi: 10.1089/hum.2015.033. Epub 2015 Sep 29.

7.

The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.

Kishnani PS, Beckemeyer AA, Mendelsohn NJ.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):1-7. doi: 10.1002/ajmg.c.31324. Epub 2012 Jan 17.

PMID:
22253049
8.

The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease.

Lacaná E, Yao LP, Pariser AR, Rosenberg AS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):30-9. doi: 10.1002/ajmg.c.31316. Epub 2012 Jan 17.

PMID:
22253234
9.

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.

Cardone M, Porto C, Tarallo A, Vicinanza M, Rossi B, Polishchuk E, Donaudy F, Andria G, De Matteis MA, Parenti G.

Pathogenetics. 2008 Dec 1;1(1):6. doi: 10.1186/1755-8417-1-6.

10.

Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.

Xu F, Ding E, Liao SX, Migone F, Dai J, Schneider A, Serra D, Chen YT, Amalfitano A.

Gene Ther. 2004 Nov;11(21):1590-8.

PMID:
15356673
11.

Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.

Porto C, Ferrara MC, Meli M, Acampora E, Avolio V, Rosa M, Cobucci-Ponzano B, Colombo G, Moracci M, Andria G, Parenti G.

Mol Ther. 2012 Dec;20(12):2201-11. doi: 10.1038/mt.2012.152. Epub 2012 Sep 18.

12.

Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

Case LE, Beckemeyer AA, Kishnani PS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79. doi: 10.1002/ajmg.c.31321. Epub 2012 Jan 17. Review.

PMID:
22252989
13.

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, Banugaria SG, Chen YT, Bali DS.

Mol Genet Metab. 2011 Jun;103(2):107-12. doi: 10.1016/j.ymgme.2011.02.006. Epub 2011 Feb 13.

14.

Pompe disease: early diagnosis and early treatment make a difference.

Chien YH, Hwu WL, Lee NC.

Pediatr Neonatol. 2013 Aug;54(4):219-27. doi: 10.1016/j.pedneo.2013.03.009. Epub 2013 Apr 28. Review.

15.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.

Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35.

16.

New insights into therapeutic options for Pompe disease.

Richard E, Douillard-Guilloux G, Caillaud C.

IUBMB Life. 2011 Nov;63(11):979-86. doi: 10.1002/iub.529. Epub 2011 Oct 14. Review.

17.

Teaching tolerance: New approaches to enzyme replacement therapy for Pompe disease.

Cousens LP, Mingozzi F, van der Marel S, Su Y, Garman R, Ferreira V, Martin W, Scott DW, De Groot AS.

Hum Vaccin Immunother. 2012 Oct;8(10):1459-64. doi: 10.4161/hv.21405. Epub 2012 Oct 1.

18.

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, Feeney EJ, Raben N, Kishnani PS.

Orphanet J Rare Dis. 2013 Jun 20;8:90. doi: 10.1186/1750-1172-8-90.

19.

Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.

Pauly DF, Fraites TJ, Toma C, Bayes HS, Huie ML, Hirschhorn R, Plotz PH, Raben N, Kessler PD, Byrne BJ.

Hum Gene Ther. 2001 Mar 20;12(5):527-38.

PMID:
11268285
20.

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G.

Mol Ther. 2007 Mar;15(3):508-14. Epub 2007 Jan 9.

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