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Items: 1 to 20 of 107

1.

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen YT, Kishnani PS.

Mol Genet Metab. 2013 Feb;108(2):145-7. doi: 10.1016/j.ymgme.2012.12.002. Epub 2012 Dec 27.

PMID:
23318145
2.

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.

Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT.

Genet Med. 2001 Mar-Apr;3(2):132-8.

PMID:
11286229
3.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.

Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

4.

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.

de Vries JM, van der Beek NA, Kroos MA, Ozkan L, van Doorn PA, Richards SM, Sung CC, Brugma JD, Zandbergen AA, van der Ploeg AT, Reuser AJ.

Mol Genet Metab. 2010 Dec;101(4):338-45. doi: 10.1016/j.ymgme.2010.08.009. Epub 2010 Aug 14.

PMID:
20826098
5.

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.

Ashe KM, Taylor KM, Chu Q, Meyers E, Ellis A, Jingozyan V, Klinger K, Finn PF, Cooper CG, Chuang WL, Marshall J, McPherson JM, Mattaliano RJ, Cheng SH, Scheule RK, Moreland RJ.

Mol Genet Metab. 2010 Aug;100(4):309-15. doi: 10.1016/j.ymgme.2010.05.001. Epub 2010 May 5.

PMID:
20554235
6.

Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa.

Lipinski SE, Lipinski MJ, Burnette A, Platts-Mills TA, Wilson WG.

Mol Genet Metab. 2009 Nov;98(3):319-21. doi: 10.1016/j.ymgme.2009.07.001. Epub 2009 Jul 7.

PMID:
19640753
7.

Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease.

Nilsson MI, Samjoo IA, Hettinga BP, Koeberl DD, Zhang H, Hawke TJ, Nissar AA, Ali T, Brandt L, Ansari MU, Hazari H, Patel N, Amon J, Tarnopolsky MA.

Mol Genet Metab. 2012 Nov;107(3):469-79. doi: 10.1016/j.ymgme.2012.09.010. Epub 2012 Sep 15.

PMID:
23041258
8.

24-months results in two adults with Pompe disease on enzyme replacement therapy.

Vielhaber S, Brejova A, Debska-Vielhaber G, Kaufmann J, Feistner H, Schoenfeld MA, Awiszus F.

Clin Neurol Neurosurg. 2011 Jun;113(5):350-7. doi: 10.1016/j.clineuro.2010.09.016. Epub 2011 Apr 7.

PMID:
21477922
9.

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.

Orlikowski D, Pellegrini N, Prigent H, Laforêt P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D.

Neuromuscul Disord. 2011 Jul;21(7):477-82. doi: 10.1016/j.nmd.2011.04.001. Epub 2011 May 6.

PMID:
21550241
10.

Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice.

Zhu Y, Li X, Kyazike J, Zhou Q, Thurberg BL, Raben N, Mattaliano RJ, Cheng SH.

J Biol Chem. 2004 Nov 26;279(48):50336-41. Epub 2004 Sep 21.

11.
12.

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease.

Hawes ML, Kennedy W, O'Callaghan MW, Thurberg BL.

Mol Genet Metab. 2007 Aug;91(4):343-51. Epub 2007 Jun 14.

PMID:
17572127
13.

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.

J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1.

PMID:
19649685
14.

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
15.

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Yi H, Gao F, Austin S, Kishnani PS, Sun B.

Mol Genet Metab Rep. 2016 Oct 4;9:31-33. eCollection 2016 Dec.

16.

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
17.

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

Byrne BJ, Geberhiwot T, Barshop BA, Barohn R, Hughes D, Bratkovic D, Desnuelle C, Laforet P, Mengel E, Roberts M, Haroldsen P, Reilley K, Jayaram K, Yang K, Walsh L; POM-001/002 Investigators.

Orphanet J Rare Dis. 2017 Aug 24;12(1):144. doi: 10.1186/s13023-017-0693-2.

18.

Alglucosidase alfa and Pompe disease: still going strong?

Lipinski SE.

Mol Genet Metab. 2012 Nov;107(3):245-6. doi: 10.1016/j.ymgme.2012.09.014. Epub 2012 Sep 17. No abstract available.

PMID:
23034445
19.

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

Horvath JJ, Austin SL, Jones HN, Drake EJ, Case LE, Soher BJ, Bashir MR, Kishnani PS.

Mol Genet Metab. 2012 Nov;107(3):496-500. doi: 10.1016/j.ymgme.2012.09.025. Epub 2012 Sep 28.

PMID:
23062577
20.

Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.

McVie-Wylie AJ, Lee KL, Qiu H, Jin X, Do H, Gotschall R, Thurberg BL, Rogers C, Raben N, O'Callaghan M, Canfield W, Andrews L, McPherson JM, Mattaliano RJ.

Mol Genet Metab. 2008 Aug;94(4):448-55. doi: 10.1016/j.ymgme.2008.04.009. Epub 2008 Jun 5.

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