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Items: 1 to 20 of 25

1.

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

Bijvoet AG, van de Kamp EH, Kroos MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, Oostra BA, Reuser AJ, van der Ploeg AT.

Hum Mol Genet. 1998 Jan;7(1):53-62.

PMID:
9384603
2.

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
3.

Autophagy in skeletal muscle: implications for Pompe disease.

Shea L, Raben N.

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

4.

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
5.

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.

6.

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
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.

Glycogen storage disease type II in the Lapland dog.

Walvoort HC.

Vet Q. 1985 Jul;7(3):187-90. Review.

PMID:
3901497
9.

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
10.

Non-muscle involvement in late-onset glycogenosis II.

Filosto M, Todeschini A, Cotelli MS, Vielmi V, Rinaldi F, Rota S, Scarpelli M, Padovani A.

Acta Myol. 2013 Oct;32(2):91-4. Review.

11.

[Changes in glycogen metabolism in hereditary muscular diseases (review)].

Rozenfel'd EL.

Vopr Med Khim. 1986 Jul-Aug;32(4):12-20. Review. Russian.

PMID:
2945316
12.

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
13.

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP.

J Neurol. 2014 Jan;261(1):83-97. doi: 10.1007/s00415-013-7137-2. Epub 2013 Oct 25. Review.

PMID:
24158270
14.

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.

15.

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
16.

Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?

Rodríguez-Arribas M, Pedro JM, Gómez-Sánchez R, Yakhine-Diop SM, Martínez-Chacón G, Uribe-Carretero E, De Castro DC, Casado-Naranjo I, López de Munaín A, Niso-Santano M, Fuentes JM, González-Polo RA.

Curr Med Chem. 2016;23(21):2275-85. Review.

PMID:
27237817
17.

Role of autophagy in the pathogenesis of Pompe disease.

Raben N, Roberts A, Plotz PH.

Acta Myol. 2007 Jul;26(1):45-8. Review.

18.

Successful combined liver/kidney transplantation from a donor with Pompe disease.

Halldorson J, Kazi Z, Mekeel K, Kuo A, Hassanein T, Loomba R, Austin S, Valasek MA, Kishnani P, Hemming AW.

Mol Genet Metab. 2015 Aug;115(4):141-4. doi: 10.1016/j.ymgme.2015.05.007. Epub 2015 May 13. Review.

PMID:
26031770
19.

Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles.

Reuser AJ, Drost MR.

Acta Paediatr Suppl. 2006 Apr;95(451):77-82. Review.

PMID:
16720471
20.

[Glycogen metabolism and acid alpha-glucosidase in animals (author's transl)].

Fujimori K.

Tanpakushitsu Kakusan Koso. 1973 Nov;18(11):1018-34. Review. Japanese. No abstract available.

PMID:
4587671

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