Timing of diagnosis of patients with pompe disease: Data from the pompe registry

Author:

Kishnani Priya S.1,Amartino Hernán M.2,Lindberg Christopher3,Miller Timothy M.4,Wilson Amanda4,Keutzer Joan4,

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics; Duke University Medical Center; Durham; North Carolina

2. Division of Child Neurology, Department of Pediatrics; Austral University Hospital; Buenos Aires; Argentina

3. Neuromuscular Centre; Sahlgrenska University Hospital; Gothenburg; Sweden

4. Genzyme, a Sanofi company; Cambridge; Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference79 articles.

1. Diagnostic criteria for late-onset (childhood and adult) Pompe disease;American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM);Muscle Nerve,2009

2. Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: Identification of a novel mutation in the acid alpha-glucosidase gene;Alcantara-Ortigoza;J Child Neurol,2010

3. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial;Amalfitano;Genet Med,2001

4. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years;Angelini;J Neurol,2012

5. A diagnostic protocol for adult-onset glycogen storage disease type II;Ausems;Neurology,1999

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