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Items: 1 to 20 of 29

1.

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.

Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ.

Mol Genet Metab. 2007 Jan;90(1):49-57. Epub 2006 Nov 13.

PMID:
17095274
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.

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
4.

[Pompe's disease--acid alpha-glucosidase deficiency--a review].

Iwamasa T, Chinen K, Hirayasu T.

Nihon Rinsho. 1993 Sep;51(9):2324-9. Review. Japanese.

PMID:
8411709
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.

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
7.

[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
8.

alpha-Glucosidase deficiency (Pompe's disease).

Tager JM, Oude Elferink RP, Reuser A, Kroos M, Ginsel LA, Fransen JA, Klumperman J.

Enzyme. 1987;38(1-4):280-5. Review.

PMID:
3126044
9.

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
10.

Enzyme replacement therapy for Pompe disease.

Angelini C, Semplicini C.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):70-5. doi: 10.1007/s11910-011-0236-5. Review.

PMID:
22002767
11.

Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

Schoser B, Hill V, Raben N.

Neurotherapeutics. 2008 Oct;5(4):569-78. doi: 10.1016/j.nurt.2008.08.009. Review.

12.

[Pompe's disease. Part I: pathogenesis and clinical features].

Ill├ęs Z, Trauninger A.

Ideggyogy Sz. 2009 Jul 30;62(7-8):231-43. Review. Hungarian.

PMID:
19685701
13.

Antiviral therapies targeting host ER alpha-glucosidases: current status and future directions.

Chang J, Block TM, Guo JT.

Antiviral Res. 2013 Sep;99(3):251-60. doi: 10.1016/j.antiviral.2013.06.011. Epub 2013 Jun 29. Review.

PMID:
23816430
14.

Substrate reduction therapy for glycosphingolipid storage disorders.

Lachmann RH, Platt FM.

Expert Opin Investig Drugs. 2001 Mar;10(3):455-66. Review.

PMID:
11227045
15.

Autophagic vacuolar myopathies.

Nishino I.

Curr Neurol Neurosci Rep. 2003 Jan;3(1):64-9. Review.

PMID:
12507414
16.

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature.

Felice KJ, Alessi AG, Grunnet ML.

Medicine (Baltimore). 1995 May;74(3):131-5. Review.

17.

Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses.

Butters TD, Dwek RA, Platt FM.

Glycobiology. 2005 Oct;15(10):43R-52R. Epub 2005 May 18. Review.

PMID:
15901676
18.

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
19.

alpha-glucosidase (CHO) (Genzyme).

Lachmann RH.

Curr Opin Investig Drugs. 2004 Oct;5(10):1101-10. Review.

PMID:
15535432
20.

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