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Items: 1 to 20 of 347

1.

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
2.

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
3.

The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease.

Lacaná E, Yao LP, Pariser AR, Rosenberg AS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):30-9. doi: 10.1002/ajmg.c.31316. Epub 2012 Jan 17.

PMID:
22253234
4.

How to describe the clinical spectrum in Pompe disease?

Güngör D, Reuser AJ.

Am J Med Genet A. 2013 Feb;161A(2):399-400. doi: 10.1002/ajmg.a.35662. Epub 2013 Jan 8. No abstract available.

PMID:
23300052
5.

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8. doi: 10.1002/ajmg.c.31320. Epub 2012 Jan 17.

PMID:
22252961
6.

Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.

Toscano A, Schoser B.

J Neurol. 2013 Apr;260(4):951-9. doi: 10.1007/s00415-012-6636-x. Epub 2012 Aug 28. Review.

PMID:
22926164
7.

New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.

Kishnani PS, Beckemeyer AA.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114-24. Review.

PMID:
25345093
8.

The impact of antibodies in late-onset Pompe disease: a case series and literature review.

Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS.

Mol Genet Metab. 2012 Jul;106(3):301-9. doi: 10.1016/j.ymgme.2012.04.027. Epub 2012 May 9.

PMID:
22613277
9.

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS.

Mol Genet Metab. 2017 Mar;120(3):163-172. doi: 10.1016/j.ymgme.2016.12.004. Epub 2016 Dec 11. Review.

PMID:
28185884
10.

Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.

Umapathysivam K, Hopwood JJ, Meikle PJ.

Clin Chim Acta. 2005 Nov;361(1-2):191-8.

PMID:
15993875
11.

Toward deconstructing the phenotype of late-onset Pompe disease.

Schüller A, Wenninger S, Strigl-Pill N, Schoser B.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80-8. doi: 10.1002/ajmg.c.31322. Epub 2012 Jan 17.

PMID:
22253010
12.

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.

13.

Challenges in diagnosis and treatment of late-onset Pompe disease.

Desnuelle C, Salviati L.

Curr Opin Neurol. 2011 Oct;24(5):443-8. doi: 10.1097/WCO.0b013e32834a1e00. Review.

PMID:
21892081
14.

The genotype-phenotype correlation in Pompe disease.

Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):59-68. doi: 10.1002/ajmg.c.31318. Epub 2012 Jan 17. Review.

PMID:
22253258
15.

Pompe disease: early diagnosis and early treatment make a difference.

Chien YH, Hwu WL, Lee NC.

Pediatr Neonatol. 2013 Aug;54(4):219-27. doi: 10.1016/j.pedneo.2013.03.009. Epub 2013 Apr 28. Review.

16.

24-months results in two adults with Pompe disease on enzyme replacement therapy.

Vielhaber S, Brejova A, Debska-Vielhaber G, Kaufmann J, Feistner H, Schoenfeld MA, Awiszus F.

Clin Neurol Neurosurg. 2011 Jun;113(5):350-7. doi: 10.1016/j.clineuro.2010.09.016. Epub 2011 Apr 7.

PMID:
21477922
17.

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.

Case LE, Bjartmar C, Morgan C, Casey R, Charrow J, Clancy JP, Dasouki M, DeArmey S, Nedd K, Nevins M, Peters H, Phillips D, Spigelman Z, Tifft C, Kishnani PS.

Neuromuscul Disord. 2015 Apr;25(4):321-32. doi: 10.1016/j.nmd.2014.12.004. Epub 2014 Dec 19.

18.

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.

19.

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease.

Raben N, Schreiner C, Baum R, Takikita S, Xu S, Xie T, Myerowitz R, Komatsu M, Van der Meulen JH, Nagaraju K, Ralston E, Plotz PH.

Autophagy. 2010 Nov;6(8):1078-89. doi: 10.4161/auto.6.8.13378.

20.

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.

J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1.

PMID:
19649685

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