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Year | Number of Results |
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2004 | 1 |
2010 | 1 |
2012 | 1 |
2016 | 1 |
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Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286.
Hum Mutat. 2004.
PMID: 14695532
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS.
Messinger YH, et al.
Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4.
Genet Med. 2012.
PMID: 22237443
Free PMC article.
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Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Stepien KM, Hendriksz CJ, Roberts M, Sharma R.
Stepien KM, et al.
Mol Genet Metab. 2016 Apr;117(4):413-8. doi: 10.1016/j.ymgme.2016.01.013. Epub 2016 Feb 4.
Mol Genet Metab. 2016.
PMID: 26873529
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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.
de Vries JM, et al.
Mol Genet Metab. 2010 Dec;101(4):338-45. doi: 10.1016/j.ymgme.2010.08.009. Epub 2010 Aug 14.
Mol Genet Metab. 2010.
PMID: 20826098
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