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Items: 7

1.

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

Spiridigliozzi GA, Heller JH, Kishnani PS, Van der Ploeg AT, Ebbink BJ, Aarsen FK, van Gelder CM, Van den Hout JM.

Neurology. 2013 Mar 19;80(12):1173. doi: 10.1212/WNL.0b013e31828b8af0. No abstract available.

PMID:
23509050
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.

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.

4.

Pompe disease in infants and children.

Kishnani PS, Howell RR.

J Pediatr. 2004 May;144(5 Suppl):S35-43. Review. No abstract available.

PMID:
15126982
5.

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
6.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.

Llerena Junior JC, Nascimento OJ, Oliveira AS, Dourado Junior ME, Marrone CD, Siqueira HH, Sobreira CF, Dias-Tosta E, Werneck LC.

Arq Neuropsiquiatr. 2016 Feb;74(2):166-76. doi: 10.1590/0004-282X20150194. Epub 2015 Dec 22. Review. Erratum in: Arq Neuropsiquiatr. 2016 Feb;74(2):VI.

7.

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014.

Schoser B, LaforĂȘt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC).

Neuromuscul Disord. 2015 Aug;25(8):674-8. doi: 10.1016/j.nmd.2015.04.006. Epub 2015 Apr 21. No abstract available.

PMID:
25998612

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