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Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT, Palmer RE, So KS, Oba-Shinjo SM, Zhang M, Richards B, Madhiwalla ST, Finn PF, Hasegawa A, Ciociola KM, Pescatori M, McVie-Wylie AJ, Mattaliano RJ, Madden SL, Marie SK, Klinger KW, Pomponio RJ. Palermo AT, et al. Among authors: mattaliano rj. Mol Genet Metab. 2012 Jul;106(3):287-300. doi: 10.1016/j.ymgme.2012.05.004. Epub 2012 May 14. Mol Genet Metab. 2012. PMID: 22658377
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK. Oba-Shinjo SM, et al. Among authors: mattaliano rj. J Neurol. 2009 Nov;256(11):1881-90. doi: 10.1007/s00415-009-5219-y. Epub 2009 Jul 9. J Neurol. 2009. PMID: 19588081
Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease.
Zhu Y, Jiang JL, Gumlaw NK, Zhang J, Bercury SD, Ziegler RJ, Lee K, Kudo M, Canfield WM, Edmunds T, Jiang C, Mattaliano RJ, Cheng SH. Zhu Y, et al. Among authors: mattaliano rj. Mol Ther. 2009 Jun;17(6):954-63. doi: 10.1038/mt.2009.37. Epub 2009 Mar 10. Mol Ther. 2009. PMID: 19277015 Free PMC article.
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. McVie-Wylie AJ, et al. Among authors: mattaliano rj. Mol Genet Metab. 2008 Aug;94(4):448-455. doi: 10.1016/j.ymgme.2008.04.009. Epub 2008 Jun 5. Mol Genet Metab. 2008. PMID: 18538603 Free PMC article.
43 results