Associated Papers
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A et al.
Neuromuscular Disorders : Nmd, 2017
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
Rohrbach M et al.
Journal of Inherited Metabolic Disease, 2010
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