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Year | Number of Results |
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2004 | 1 |
2010 | 1 |
2011 | 3 |
2012 | 1 |
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Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
Mol Genet Metab. 2010 May;100(1):14-9. doi: 10.1016/j.ymgme.2010.01.015. Epub 2010 Feb 4.
Mol Genet Metab. 2010.
PMID: 20202878
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ.
Hermans MM, et al.
Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286.
Hum Mutat. 2004.
PMID: 14695532
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Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation.
Shimada Y, Nishida H, Nishiyama Y, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T.
Shimada Y, et al.
Biochem Biophys Res Commun. 2011 Nov 18;415(2):274-8. doi: 10.1016/j.bbrc.2011.10.038. Epub 2011 Oct 18.
Biochem Biophys Res Commun. 2011.
PMID: 22027144
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Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
Shimada Y, Kobayashi H, Kawagoe S, Aoki K, Kaneshiro E, Shimizu H, Eto Y, Ida H, Ohashi T.
Shimada Y, et al.
Mol Genet Metab. 2011 Dec;104(4):566-73. doi: 10.1016/j.ymgme.2011.09.005. Epub 2011 Sep 14.
Mol Genet Metab. 2011.
PMID: 21982629
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Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M.
Furusawa Y, et al.
J Inherit Metab Dis. 2012 Mar;35(2):301-10. doi: 10.1007/s10545-011-9393-6. Epub 2011 Oct 7.
J Inherit Metab Dis. 2012.
PMID: 21984055
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