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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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2018 | 1 |
2019 | 1 |
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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.
Hum Mol Genet. 1994 Dec;3(12):2231-6. doi: 10.1093/hmg/3.12.2231.
Hum Mol Genet. 1994.
PMID: 7881425
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N.
Boerkoel CF, et al.
Am J Hum Genet. 1995 Apr;56(4):887-97.
Am J Hum Genet. 1995.
PMID: 7717400
Free PMC article.
Item in Clipboard
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ.
Kroos MA, et al.
Hum Mutat. 1997;9(1):17-22. doi: 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M.
Hum Mutat. 1997.
PMID: 8990003
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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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Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
Gort L, Coll MJ, Chabás A.
Gort L, et al.
Mol Genet Metab. 2007 Sep-Oct;92(1-2):183-7. doi: 10.1016/j.ymgme.2007.05.011. Epub 2007 Jul 5.
Mol Genet Metab. 2007.
PMID: 17616415
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Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
Herbert M, Case LE, Rairikar M, Cope H, Bailey L, Austin SL, Kishnani PS.
Herbert M, et al.
Mol Genet Metab. 2019 Feb;126(2):106-116. doi: 10.1016/j.ymgme.2018.08.009. Epub 2018 Aug 23.
Mol Genet Metab. 2019.
PMID: 30655185
Free PMC article.
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