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Items: 1 to 20 of 74

1.

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.

2.

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
3.

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

Raben N, Plotz P, Byrne BJ.

Curr Mol Med. 2002 Mar;2(2):145-66. Review.

PMID:
11949932
4.

[Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)].

Ohno K.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):491-2. Review. Japanese. No abstract available.

PMID:
11032005
5.

New insights into therapeutic options for Pompe disease.

Richard E, Douillard-Guilloux G, Caillaud C.

IUBMB Life. 2011 Nov;63(11):979-86. doi: 10.1002/iub.529. Epub 2011 Oct 14. Review.

6.

Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.

Katzin LW, Amato AA.

J Clin Neuromuscul Dis. 2008 Jun;9(4):421-31. doi: 10.1097/CND.0b013e318176dbe4. Review.

PMID:
18525427
7.

Pompe disease: current state of treatment modalities and animal models.

Geel TM, McLaughlin PM, de Leij LF, Ruiters MH, Niezen-Koning KE.

Mol Genet Metab. 2007 Dec;92(4):299-307. Epub 2007 Sep 7. Review.

PMID:
17826266
8.

Autophagy in skeletal muscle: implications for Pompe disease.

Shea L, Raben N.

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

9.

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
10.

Towards a molecular therapy for glycogen storage disease type II (Pompe disease).

Chen YT, Amalfitano A.

Mol Med Today. 2000 Jun;6(6):245-51. Review.

PMID:
10840383
11.

Genetic defects in patients with glycogenosis type II (acid maltase deficiency).

Raben N, Nichols RC, Boerkoel C, Plotz P.

Muscle Nerve Suppl. 1995;3:S70-4. Review.

PMID:
7603531
12.

Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II.

Hesselink RP, Wagenmakers AJ, Drost MR, Van der Vusse GJ.

Biochim Biophys Acta. 2003 Mar 20;1637(2):164-70. Review.

13.
14.

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I.

Neuromuscul Disord. 2008 Jul;18(7):521-9. doi: 10.1016/j.nmd.2008.04.010. Epub 2008 May 27. Review.

PMID:
18502640
15.

Approach to gene therapy of glycogenosis type II (Pompe disease).

Poenaru L.

Mol Genet Metab. 2000 Jul;70(3):163-9. Review.

PMID:
10924270
16.

Acid alpha-glucosidase deficiency (Pompe disease).

Fukuda T, Roberts A, Plotz PH, Raben N.

Curr Neurol Neurosci Rep. 2007 Jan;7(1):71-7. Review.

PMID:
17217857
17.

[Glycogenosis type II; acid alpha-glucosidase deficiency].

Hirayasu T, Chinen K, Sakuda H, Iwamasa T.

Nihon Rinsho. 1995 Dec;53(12):2938-42. Review. Japanese.

PMID:
8577039
18.

Enzyme therapy for Pompe disease: from science to industrial enterprise.

Reuser AJ, Van Den Hout H, Bijvoet AG, Kroos MA, Verbeet MP, Van Der Ploeg AT.

Eur J Pediatr. 2002 Oct;161 Suppl 1:S106-11. Epub 2002 Aug 13. Review.

PMID:
12373583
19.

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
20.

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.

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