16917947 27170567 17210890 27189384 14695532 7881425[uid] - Search Results

Year	Number of Results
1994	1
2004	1
2006	1
2007	1
2016	2
2024	0

1

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

2

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B. Lukacs Z, et al. Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11. Neurology. 2016. PMID: 27170567 Free PMC article.

3

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

4

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.

5

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

6

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

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