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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1994 | 1 |
1995 | 1 |
2006 | 3 |
2007 | 1 |
2013 | 1 |
2014 | 2 |
2024 | 0 |
Search Results
7 results
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Page 1
Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
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
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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Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP.
Remiche G, et al.
J Neurol. 2014 Jan;261(1):83-97. doi: 10.1007/s00415-013-7137-2. Epub 2013 Oct 25.
J Neurol. 2014.
PMID: 24158270
Review.
Item in Clipboard
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
Hermans MM, De Graaff E, Kroos MA, Mohkamsing S, Eussen BJ, Joosse M, Willemsen R, Kleijer WJ, Oostra BA, Reuser AJ.
Hermans MM, et al.
Hum Mol Genet. 1994 Dec;3(12):2213-8. doi: 10.1093/hmg/3.12.2213.
Hum Mol Genet. 1994.
PMID: 7881422
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Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ, Van den Boogaard MJ, Ausems MG, Ploos van Amstel HK, Poenaru L, Nicolino M, et al.
Kroos MA, et al.
J Med Genet. 1995 Oct;32(10):836-7. doi: 10.1136/jmg.32.10.836-a.
J Med Genet. 1995.
PMID: 8558570
Free PMC article.
No abstract available.
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Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.
Beltran Papsdorf TB, Howard JF Jr, Chahin N.
Beltran Papsdorf TB, et al.
Neurology. 2014 Mar 4;82(9):e73-5. doi: 10.1212/WNL.0000000000000163.
Neurology. 2014.
PMID: 24590251
Free PMC article.
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Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS.
Kishnani PS, et al.
Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3.
Genet Med. 2006.
PMID: 16702877
Free PMC article.
No abstract available.
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