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Year | Number of Results |
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2006 | 1 |
2007 | 1 |
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Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745.
Hum Mutat. 2008.
PMID: 18425781
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS.
Bali DS, et al.
Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17.
Am J Med Genet C Semin Med Genet. 2012.
PMID: 22252923
Free PMC article.
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Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA.
Palmer RE, et al.
Neuromuscul Disord. 2007 Jan;17(1):16-22. doi: 10.1016/j.nmd.2006.09.004. Epub 2006 Oct 23.
Neuromuscul Disord. 2007.
PMID: 17056254
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