Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 119

Similar articles for PubMed (Select 24399865)

1.

Non-muscle involvement in late-onset glycogenosis II.

Filosto M, Todeschini A, Cotelli MS, Vielmi V, Rinaldi F, Rota S, Scarpelli M, Padovani A.

Acta Myol. 2013 Oct;32(2):91-4. Review.

2.

Clinical features of Pompe disease.

Manganelli F, Ruggiero L.

Acta Myol. 2013 Oct;32(2):82-4.

3.

The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.

Kishnani PS, Beckemeyer AA, Mendelsohn NJ.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):1-7. doi: 10.1002/ajmg.c.31324. Epub 2012 Jan 17.

PMID:
22253049
4.
5.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.

Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35.

6.

Late-onset Glycogen Storage Disease type 2.

Filosto M, Cotelli MS, Vielmi V, Todeschini A, Rinaldi F, Rota S, Scarpelli M, Padovani A.

Curr Mol Med. 2014 Oct 10. [Epub ahead of print]

PMID:
25323875
7.

Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity.

Wierzba-Bobrowicz T, Lewandowska E, Lugowska A, Rola R, Stepień T, Ryglewicz D, Pasennik E.

Folia Neuropathol. 2007;45(4):179-86.

PMID:
18176891
8.

Enzyme replacement therapy for Pompe disease.

Angelini C, Semplicini C.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):70-5. doi: 10.1007/s11910-011-0236-5. Review.

PMID:
22002767
9.

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.

Hum Mol Genet. 2010 Feb 15;19(4):684-96. doi: 10.1093/hmg/ddp535. Epub 2009 Dec 3.

10.

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

Bijvoet AG, van de Kamp EH, Kroos MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, Oostra BA, Reuser AJ, van der Ploeg AT.

Hum Mol Genet. 1998 Jan;7(1):53-62.

11.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G.

Orphanet J Rare Dis. 2013 Oct 10;8:159. doi: 10.1186/1750-1172-8-159.

12.

Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.

van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA.

Acta Neurol Belg. 2006 Jun;106(2):82-6. Review.

PMID:
16898258
13.

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.

J Neurol. 2014 Jan;261(1):83-97. doi: 10.1007/s00415-013-7137-2. Epub 2013 Oct 25. Review.

PMID:
24158270
14.

Glycogenosis type II (acid maltase deficiency).

Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT.

Muscle Nerve Suppl. 1995;3:S61-9. Review.

PMID:
7603530
15.

Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.

Xu F, Ding E, Liao SX, Migone F, Dai J, Schneider A, Serra D, Chen YT, Amalfitano A.

Gene Ther. 2004 Nov;11(21):1590-8.

PMID:
15356673
16.

Glycogen storage disease type II: clinical overview.

Di Rocco M, Buzzi D, Tarò M.

Acta Myol. 2007 Jul;26(1):42-4. Review.

17.

Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.

Musumeci O, Catalano N, Barca E, Ravaglia S, Fiumara A, Gangemi G, Rodolico C, Sorge G, Vita G, Galletti F, Toscano A.

Mol Genet Metab. 2012 Nov;107(3):480-4. doi: 10.1016/j.ymgme.2012.07.024. Epub 2012 Aug 17.

PMID:
22958975
18.

Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

Case LE, Beckemeyer AA, Kishnani PS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79. doi: 10.1002/ajmg.c.31321. Epub 2012 Jan 17. Review.

PMID:
22252989
19.

[Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].

Zhang HB, Zhang WM, Qiu JJ, Meng Y, Qiu ZQ.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):415-9. Chinese.

PMID:
22931935
20.

Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression.

Sun B, Zhang H, Bird A, Li S, Young SP, Koeberl DD.

J Gene Med. 2009 Oct;11(10):913-20. doi: 10.1002/jgm.1372.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk