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Results: 8

1.

New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.

Kishnani PS, Beckemeyer AA.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114-24. Review.

PMID:
25345093
[PubMed - indexed for MEDLINE]
2.

Diagnosis and management of Pompe disease.

Bhengu L, Davidson A, du Toit P, Els C, Gerntholtz T, Govendrageloo K, Henderson B, Mubaiwa L, Varughese S; Lysosomal Storage Disease Medical Advisory Board, South Africa.

S Afr Med J. 2014 Apr;104(4):273-4. Review.

PMID:
25118547
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Pompe disease: early diagnosis and early treatment make a difference.

Chien YH, Hwu WL, Lee NC.

Pediatr Neonatol. 2013 Aug;54(4):219-27. doi: 10.1016/j.pedneo.2013.03.009. Epub 2013 Apr 28. Review.

PMID:
23632029
[PubMed - indexed for MEDLINE]
5.

Unintended effects of orphan product designation for rare neurological diseases.

Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network.

Ann Neurol. 2012 Oct;72(4):481-90. doi: 10.1002/ana.23672. Review.

PMID:
23109143
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.

Toscano A, Schoser B.

J Neurol. 2013 Apr;260(4):951-9. doi: 10.1007/s00415-012-6636-x. Epub 2012 Aug 28. Review.

PMID:
22926164
[PubMed - indexed for MEDLINE]
7.

Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

Case LE, Beckemeyer AA, Kishnani PS.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79. doi: 10.1002/ajmg.c.31321. Epub 2012 Jan 17. Review.

PMID:
22252989
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
22002928
[PubMed - indexed for MEDLINE]

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