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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2002 | 1 |
2008 | 1 |
2012 | 1 |
2024 | 0 |
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Page 1
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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Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Raben N, Plotz P, Byrne BJ.
Raben N, et al.
Curr Mol Med. 2002 Mar;2(2):145-66. doi: 10.2174/1566524024605789.
Curr Mol Med. 2002.
PMID: 11949932
Review.
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