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Items: 1 to 20 of 142

1.

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.

2.

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, Feeney EJ, Raben N, Kishnani PS.

Orphanet J Rare Dis. 2013 Jun 20;8:90. doi: 10.1186/1750-1172-8-90.

3.

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, StepieĊ„ T, Ryglewicz D, Pasennik E.

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

4.

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, Hwu WL, Ralston E, Kishnani PS, Raben N.

Acta Neuropathol Commun. 2014 Jan 2;2:2. doi: 10.1186/2051-5960-2-2.

5.

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.

Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT.

Muscle Nerve. 2003 Jun;27(6):743-51.

PMID:
12766987
6.

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.

Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O'Callaghan M.

Lab Invest. 2006 Dec;86(12):1208-20. Epub 2006 Oct 30.

7.

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients.

Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M.

Autophagy. 2012 Nov;8(11):1697-700. doi: 10.4161/auto.21691. Epub 2012 Aug 31.

8.

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
9.

Autophagy in skeletal muscle: implications for Pompe disease.

Shea L, Raben N.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S42-7. Review.

10.

Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease.

Nishiyama Y, Shimada Y, Yokoi T, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T.

Mol Genet Metab. 2012 Nov;107(3):490-5. doi: 10.1016/j.ymgme.2012.09.011. Epub 2012 Sep 15.

PMID:
23041259
11.

Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.

Matalon R, Surendran S, Campbell GA, Michals-Matalon K, Tyring SK, Grady J, Cheng S, Kaye E.

Biochem Biophys Res Commun. 2006 Nov 24;350(3):783-7. Epub 2006 Oct 2.

PMID:
17027913
12.

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, Banugaria SG, Chen YT, Bali DS.

Mol Genet Metab. 2011 Jun;103(2):107-12. doi: 10.1016/j.ymgme.2011.02.006. Epub 2011 Feb 13.

13.

Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.

Raben N, Wong A, Ralston E, Myerowitz R.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):13-21. doi: 10.1002/ajmg.c.31317. Epub 2012 Jan 17. Review.

14.

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
15.

When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease.

Raben N, Baum R, Schreiner C, Takikita S, Mizushima N, Ralston E, Plotz P.

Autophagy. 2009 Jan;5(1):111-3. Epub 2009 Jan 30.

16.

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.

17.

Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.

Shimada Y, Kobayashi H, Kawagoe S, Aoki K, Kaneshiro E, Shimizu H, Eto Y, Ida H, Ohashi T.

Mol Genet Metab. 2011 Dec;104(4):566-73. doi: 10.1016/j.ymgme.2011.09.005. Epub 2011 Sep 14.

PMID:
21982629
18.

High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology.

Lynch CM, Johnson J, Vaccaro C, Thurberg BL.

J Histochem Cytochem. 2005 Jan;53(1):63-73.

PMID:
15637339
19.

Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.

Takikita S, Myerowitz R, Zaal K, Raben N, Plotz PH.

Mol Genet Metab. 2009 Apr;96(4):208-17. doi: 10.1016/j.ymgme.2008.12.012. Epub 2009 Jan 22.

20.

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.

Mol Ther. 2005 Jan;11(1):48-56.

PMID:
15585405
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