The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management

Author:

Kishnani Priya S.,Beckemeyer Alexandra A.,Mendelsohn Nancy J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. 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

2. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease;Banugaria;Genet Med,2011

3. Dietary treatment in late-onset acid maltase deficiency;Bodamer;Eur J Pediatr,1997

4. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns;Carlier;Neuromuscul Disord,2011

5. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy;Chien;Pediatr Res,2006

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