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Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Wolf P, Alcalay RN, Liong C, Cullen E, Pauciulo MW, Nichols WC, Gan-Or Z, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Kate Zhang X, Keutzer JM, Oliva P. Wolf P, et al. Among authors: pomponio rj. Mol Genet Metab. 2018 Feb;123(2):135-139. doi: 10.1016/j.ymgme.2017.10.011. Epub 2017 Oct 23. Mol Genet Metab. 2018. PMID: 29100779 Free PMC article.
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: pomponio 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: pomponio 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
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ. Kroos MA, et al. Among authors: pomponio rj. Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76. Neurology. 2007. PMID: 17210890
35 results