18425781,18458862,22644586[uid] - Search Results

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Year	Number of Results
2008	2
2012	1
2025	0

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Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745. Hum Mutat. 2008. PMID: 18425781

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ. Wan L, et al. J Neurol. 2008 Jun;255(6):831-8. doi: 10.1007/s00415-008-0714-0. Epub 2008 May 6. J Neurol. 2008. PMID: 18458862

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A; GAA Database Consortium. Kroos M, et al. Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22644586

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