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Items: 1 to 20 of 219

1.

[Enzyme Replacement Therapy for Pompe Disease: The Long-Term Efficacy and Limitation].

Fukuda T, Sugie H.

Brain Nerve. 2015 Sep;67(9):1091-8. doi: 10.11477/mf.1416200265. Review. Japanese.

PMID:
26329149
2.

Myositis Mimics.

Michelle EH, Mammen AL.

Curr Rheumatol Rep. 2015 Oct;17(10):63. doi: 10.1007/s11926-015-0541-0. Review.

PMID:
26290112
3.

Preclinical Development of New Therapy for Glycogen Storage Diseases.

Sun B, Brooks ED, Koeberl DD.

Curr Gene Ther. 2015;15(4):338-47. Review.

4.

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
5.

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, Laforêt 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
6.

The role of antibodies in enzyme treatments and therapeutic strategies.

Bigger BW, Saif M, Linthorst GE.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):183-94. doi: 10.1016/j.beem.2015.01.006. Epub 2015 Jan 24. Review.

PMID:
25987172
7.

Gaucher-Associated Parkinsonism.

Li Y, Li P, Liang H, Zhao Z, Hashimoto M, Wei J.

Cell Mol Neurobiol. 2015 Aug;35(6):755-61. doi: 10.1007/s10571-015-0176-8. Epub 2015 Mar 29. Review.

8.

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
9.

[Shift of focus in the financing of Hungarian drugs. Reimbursement for orphan drugs for treating rare diseases: financing of enzyme replacement therapy in Hungary].

Szegedi M, Molnár MJ, Boncz I, Kosztolányi G.

Orv Hetil. 2014 Nov 2;155(44):1735-41. doi: 10.1556/OH.2014.30031. Review. Hungarian.

PMID:
25344850
10.

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.

Beamer LJ.

J Inherit Metab Dis. 2015 Mar;38(2):243-56. doi: 10.1007/s10545-014-9757-9. Epub 2014 Aug 29. Review.

PMID:
25168163
11.

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
12.

Pompe disease: literature review and case series.

Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, Herbelin L, Barohn RJ, Dimachkie MM.

Neurol Clin. 2014 Aug;32(3):751-76, ix. doi: 10.1016/j.ncl.2014.04.010. Review.

13.

Spectrum of metabolic myopathies.

Angelini C.

Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2. Review.

14.

Glucocerebrosidase deficits in sporadic Parkinson disease.

Murphy KE, Halliday GM.

Autophagy. 2014 Jul;10(7):1350-1. doi: 10.4161/auto.29074. Epub 2014 May 15. Review.

15.

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.

16.

Genetics and genomics of pulmonary arterial hypertension.

Soubrier F, Chung WK, Machado R, Grünig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M.

J Am Coll Cardiol. 2013 Dec 24;62(25 Suppl):D13-21. doi: 10.1016/j.jacc.2013.10.035. Review.

17.

[Diagnosis and therapy of late onset Pompe disease].

Schüller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, Lukacs Z, Gläser D, Young P, Plöckinger U, Schoser B.

Nervenarzt. 2013 Dec;84(12):1467-72. doi: 10.1007/s00115-013-3947-9. Review. German.

PMID:
24264645
18.

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR.

Br J Radiol. 2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14. Review. Erratum in: Br J Radiol. 2014 Mar;87(1035):20149002.

19.

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
20.

[Diagnosis and treatment of Pompe disease].

Bravo-Oro A, de la Fuente-Cortez B, Molina-García A, Romero-Díaz V, Rodríguez-Leyva I, Esmer-Sánchez Mdel C; Grupo Mexicano de Estudio de la Enfermedad de Pompe.

Rev Med Inst Mex Seguro Soc. 2013 Sep-Oct;51(5):536-51. Review. Spanish.

PMID:
24144148
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