Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

Author:

Angelini C., ,Semplicini C.,Ravaglia S.,Bembi B.,Servidei S.,Pegoraro E.,Moggio M.,Filosto M.,Sette E.,Crescimanno G.,Tonin P.,Parini R.,Morandi L.,Marrosu G.,Greco G.,Musumeci O.,Di Iorio G.,Siciliano G.,Donati M. A.,Carubbi F.,Ermani M.,Mongini T.,Toscano A.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Reference13 articles.

1. Hirschhorn R, Reuser AJ (2001) Glycogen storage disease type II: acid alphaglucosidase (acid maltase) deficiency. In: Scriver CR, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn edn. McGraw-Hill, New York, pp 3389–3420

2. Engel AG, Hirschhorn R (1994) Acid maltase deficiency. In: Engel A, Franzini-Armstrong C (eds) Myology: basic and clinical. McGraw-Hill, New York, pp 1533–1553

3. Laforet P, Nicolino M, Eymard PB et al (2000) Juvenile and adultonset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 55:1122–1128

4. Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT (2005) Clinical manifestation and naturai course of late-onset Pompe’s disease in 54 Dutch patients. Brain 128(Pt 3):671–677

5. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT (2005) The natural course of non-classic Pompe’s disease: a review of 225 published cases. J Neurol 252:875–884

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