State of the art in muscle glycogenoses

Acta Myologica

Volumn 29, Issue OCTOBER, 2010, Pages 339-342

  Angelini, C ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Enzyme replacement therapy; Glycogenosis; McArdle disease; Pompe disease

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADVERSE DRUG REACTION; ARTICLE; CLINICAL FEATURE; DIET THERAPY; DRUG SAFETY; ENZYME REPLACEMENT; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 2; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; INFUSION REACTION; SYMPTOM;

DIET THERAPY; ENZYME REPLACEMENT THERAPY; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE II; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MUSCLE, SKELETAL;

EID: 78651432253     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alphaj-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007; 68: 99-109.
2. Laforêt P, Nicolino M, Eymard PB, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000; 55: 1122-8.
3. Nascimbeni AC, Fanin M, Tasca E, et al. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology 2008; 70: 617-26.
4. Hug G, Schubert WK. Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger. J Cell Biol 1967; 35: C1-C6.
5. Slonim AE, Bulone L, Goldberg T, et al. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve 2007; 35: 70-7.
6. Hagemans ML, van Schie SP, Janssens AC, et al. Fatigue: an important feature of late-onset Pompe disease. J Neurol 2007; 254: 941-5.
7. Winkel LP, Van den Hout JM, Kamphoven JH, et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 2004; 55: 495-502.
8. Angelini C, Semplicini C, Tonin P, et al. Progress in Enzyme Replacement Therapy in glycogen storage disease type II. Therap Adv Neurol Disord 2009; 2: 143-53.
9. Strothotte S, Strigl-Pill N, Grunert B, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 2010; 257: 91-7.
10. Van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010; 362: 1396-406.
11. Zhu Y, Li X, Kyazike J, et al. Conjugation of mannose 6-phosphatecontaining oligosaccharides to acid-glucosidase improves the clearance of glycogen in Pompe mice. J Biol Chem 2004; 279; 50336-41.
12. Quinlivan R, Beynon RJ, Martinuzzi A. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev 2008; 16: CD003458.