PubMed (cited) for id: 606800

Year	Number of Results
1978	1
1979	2
1980	1
1981	1
1982	2
1984	3
1985	2
1986	1
1988	1
1989	1
1990	3
1991	2
1993	1
1994	3
1995	3
1996	4
1997	1
1998	5
1999	1
2000	2
2001	3
2002	1
2004	1
2005	1
2006	1
2007	2
2009	2
2010	1
2018	1
2019	1
2024	0

1

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.

2

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E. Douillard-Guilloux G, et al. Hum Mol Genet. 2010 Feb 15;19(4):684-96. doi: 10.1093/hmg/ddp535. Epub 2009 Dec 3. Hum Mol Genet. 2010. PMID: 19959526 Free PMC article.

3

Neural deficits contribute to respiratory insufficiency in Pompe disease.

DeRuisseau LR, Fuller DD, Qiu K, DeRuisseau KC, Donnelly WH Jr, Mah C, Reier PJ, Byrne BJ. DeRuisseau LR, et al. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9419-24. doi: 10.1073/pnas.0902534106. Epub 2009 May 27. Proc Natl Acad Sci U S A. 2009. PMID: 19474295 Free PMC article.

4

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

5

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

6

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

7

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG. Anneser JM, et al. Neurology. 2005 Jan 25;64(2):368-70. doi: 10.1212/01.WNL.0000149528.95362.20. Neurology. 2005. PMID: 15668445

8

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

9

Hes-1, a known transcriptional repressor, acts as a transcriptional activator for the human acid alpha-glucosidase gene in human fibroblast cells.

Yan B, Raben N, Plotz PH. Yan B, et al. Biochem Biophys Res Commun. 2002 Mar 1;291(3):582-7. doi: 10.1006/bbrc.2002.6483. Biochem Biophys Res Commun. 2002. PMID: 11855828

10

Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.

Raben N, Lu N, Nagaraju K, Rivera Y, Lee A, Yan B, Byrne B, Meikle PJ, Umapathysivam K, Hopwood JJ, Plotz PH. Raben N, et al. Hum Mol Genet. 2001 Sep 15;10(19):2039-47. doi: 10.1093/hmg/10.19.2039. Hum Mol Genet. 2001. PMID: 11590121

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