Timing of diagnosis of patients with pompe disease: Data from the pompe registry-Reference-Cited by-同舟云学术

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

Published:2013-08 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

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

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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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