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Items: 1 to 20 of 133

1.

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease.

Preisler N, Laforet P, Madsen KL, Hansen RS, Lukacs Z, Ørngreen MC, Lacour A, Vissing J.

Mol Genet Metab. 2012 Nov;107(3):462-8. doi: 10.1016/j.ymgme.2012.08.019. Epub 2012 Aug 31.

PMID:
22981821
2.

Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency?

Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforêt P.

Mol Genet Metab. 2013 May;109(1):14-20. doi: 10.1016/j.ymgme.2013.02.008. Epub 2013 Feb 19.

PMID:
23507172
3.

Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease.

Nilsson MI, Samjoo IA, Hettinga BP, Koeberl DD, Zhang H, Hawke TJ, Nissar AA, Ali T, Brandt L, Ansari MU, Hazari H, Patel N, Amon J, Tarnopolsky MA.

Mol Genet Metab. 2012 Nov;107(3):469-79. doi: 10.1016/j.ymgme.2012.09.010. Epub 2012 Sep 15.

PMID:
23041258
4.

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Preisler N, Orngreen MC, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Akman HO, Dimauro S, Vissing J.

Neurology. 2012 Jan 24;78(4):265-8. doi: 10.1212/WNL.0b013e31824365f9. Epub 2012 Jan 11.

PMID:
22238410
5.

Fat metabolism during exercise in patients with McArdle disease.

Ørngreen MC, Jeppesen TD, Andersen ST, Taivassalo T, Hauerslev S, Preisler N, Haller RG, van Hall G, Vissing J.

Neurology. 2009 Feb 24;72(8):718-24. doi: 10.1212/01.wnl.0000343002.74480.e4.

PMID:
19237700
6.

Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.

Preisler N, Laforêt P, Madsen KL, Prahm KP, Hedermann G, Vissing CR, Galbo H, Vissing J.

Neurology. 2015 Apr 28;84(17):1767-71. doi: 10.1212/WNL.0000000000001518. Epub 2015 Apr 1.

PMID:
25832663
7.

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
8.

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
9.

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.

10.

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.

Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.

Mol Genet Metab. 2012 Nov;107(3):485-9. doi: 10.1016/j.ymgme.2012.09.003. Epub 2012 Sep 7.

PMID:
23000108
11.

Periodic acid-Schiff staining on resin muscle sections: improvement in the histological diagnosis of late-onset Pompe disease.

Terracciano C, Rastelli E, Massa R.

Muscle Nerve. 2012 Apr;45(4):611-2. doi: 10.1002/mus.22293. No abstract available.

PMID:
22431097
12.

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

Ørngreen MC, Schelhaas HJ, Jeppesen TD, Akman HO, Wevers RA, Andersen ST, ter Laak HJ, van Diggelen OP, DiMauro S, Vissing J.

Neurology. 2008 May 13;70(20):1876-82. doi: 10.1212/01.wnl.0000289190.66955.67. Epub 2008 Apr 9.

PMID:
18401027
13.

Glycogenosome accumulation in the arrector pili muscle in Pompe disease.

Katona I, Weis J, Hanisch F.

Orphanet J Rare Dis. 2014 Feb 5;9:17. doi: 10.1186/1750-1172-9-17.

14.

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
15.

Mild fasting hyperglycemia shifts fuel reliance toward fat during exercise in adults with impaired glucose tolerance.

Malin SK, Viskochil R, Oliver C, Braun B.

J Appl Physiol (1985). 2013 Jul 1;115(1):78-83. doi: 10.1152/japplphysiol.00084.2013. Epub 2013 Apr 18.

16.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT.

Pediatrics. 2004 May;113(5):e448-57.

PMID:
15121988
17.

Intramyocellular lipids form an important substrate source during moderate intensity exercise in endurance-trained males in a fasted state.

van Loon LJ, Koopman R, Stegen JH, Wagenmakers AJ, Keizer HA, Saris WH.

J Physiol. 2003 Dec 1;553(Pt 2):611-25. Epub 2003 Sep 26.

18.

Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy.

Terzis G, Krase A, Papadimas G, Papadopoulos C, Kavouras SA, Manta P.

Mol Genet Metab. 2012 Dec;107(4):669-73. doi: 10.1016/j.ymgme.2012.10.020. Epub 2012 Oct 24.

PMID:
23146291
19.

Effect of short-term sprint interval training on human skeletal muscle carbohydrate metabolism during exercise and time-trial performance.

Burgomaster KA, Heigenhauser GJ, Gibala MJ.

J Appl Physiol (1985). 2006 Jun;100(6):2041-7. Epub 2006 Feb 9.

20.

Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease.

Zhu Y, Jiang JL, Gumlaw NK, Zhang J, Bercury SD, Ziegler RJ, Lee K, Kudo M, Canfield WM, Edmunds T, Jiang C, Mattaliano RJ, Cheng SH.

Mol Ther. 2009 Jun;17(6):954-63. doi: 10.1038/mt.2009.37. Epub 2009 Mar 10.

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