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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1994 | 1 |
1995 | 1 |
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2014 | 1 |
2016 | 1 |
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Page 1
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Am J Hum Genet. 1995 Apr;56(4):887-97.
Am J Hum Genet. 1995.
PMID: 7717400
Free PMC article.
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R.
Huie ML, et al.
Hum Mol Genet. 1994 Dec;3(12):2231-6. doi: 10.1093/hmg/3.12.2231.
Hum Mol Genet. 1994.
PMID: 7881425
Item in Clipboard
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG.
Montalvo AL, et al.
Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374.
Hum Mutat. 2006.
PMID: 16917947
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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.
Neurology. 2007 Jan 9;68(2):110-5. doi: 10.1212/01.wnl.0000252798.25690.76.
Neurology. 2007.
PMID: 17210890
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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
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Endovascular closure of ascending aortic pseudoaneurysm with a type II Amplatzer vascular plug.
De Boo DW, Mott N, Kavnoudias H, Walton A, Lyon SM.
De Boo DW, et al.
Vasc Endovascular Surg. 2014 May;48(4):329-32. doi: 10.1177/1538574414522329. Epub 2014 Feb 7.
Vasc Endovascular Surg. 2014.
PMID: 24510945
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Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT.
van Capelle CI, et al.
Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y.
Orphanet J Rare Dis. 2016.
PMID: 27189384
Free PMC article.
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