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Items: 1 to 20 of 32

1.

In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography.

Khan A, Weinstein Z, Hanley DA, Casey R, McNeil C, Ramage B, Boyd S.

JIMD Rep. 2013;7:81-8. doi: 10.1007/8904_2012_146. Epub 2012 Jun 6.

2.

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
3.

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.

5.

Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.

Orlikowski D, Pellegrini N, Prigent H, LaforĂȘt P, Carlier R, Carlier P, Eymard B, Lofaso F, Annane D.

Neuromuscul Disord. 2011 Jul;21(7):477-82. doi: 10.1016/j.nmd.2011.04.001. Epub 2011 May 6.

PMID:
21550241
6.

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.

Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Görlinger K, Wallot M, Richards S, Voit T.

Neuromuscul Disord. 2005 Jan;15(1):24-31. Epub 2004 Nov 26.

PMID:
15639117
7.

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH.

J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22.

PMID:
21940687
8.

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
9.

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.

Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F.

Am J Med Genet. 1997 Oct 17;72(2):135-42.

PMID:
9382133
10.

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corz D, Chen YT.

Mol Genet Metab. 2005 Aug;85(4):247-54.

PMID:
15886040
11.

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, Kanter RJ, Rice H, Chen YT, Kishnani PS.

Genet Med. 2006 May;8(5):297-301.

PMID:
16702879
12.

Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study.

Klinge L, Straub V, Neudorf U, Voit T.

Neuropediatrics. 2005 Feb;36(1):6-11.

PMID:
15776317
14.

[Enzyme replacement therapy in a patient with Pompe disease].

Fujikawa Y, Kinoshita S, Miyamoto Y, Nakayama T, Endo Y, Sasaki M.

No To Hattatsu. 2007 Sep;39(5):383-6. Japanese.

PMID:
17879614
15.

Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, Jaeken J, Frohn-Mulder IM, Merkus PJ, Corzo D, Puga AC, Reuser AJ, van der Ploeg AT.

Neuromuscul Disord. 2010 Dec;20(12):775-82. doi: 10.1016/j.nmd.2010.07.277.

PMID:
20817528
16.

Predictors of bone mass by peripheral quantitative computed tomography in early adolescent girls.

Moyer-Mileur L, Xie B, Ball S, Bainbridge C, Stadler D, Jee WS.

J Clin Densitom. 2001 Winter;4(4):313-23.

PMID:
11748336
17.

Physical therapy management of Pompe disease.

Case LE, Kishnani PS.

Genet Med. 2006 May;8(5):318-27. Review.

PMID:
16702883
18.

Fast and accurate 3-D registration of HR-pQCT images.

Shi L, Wang D, Hung VW, Yeung BH, Griffith JF, Chu WC, Heng PA, Cheng JC, Qin L.

IEEE Trans Inf Technol Biomed. 2010 Sep;14(5):1291-7. doi: 10.1109/TITB.2010.2061234. Epub 2010 Aug 19.

PMID:
20729174
20.

Pompe disease: a neuromuscular disease with respiratory muscle involvement.

Mellies U, Lofaso F.

Respir Med. 2009 Apr;103(4):477-84. doi: 10.1016/j.rmed.2008.12.009. Epub 2009 Jan 7. Review.

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