Associated Papers
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A et al.
Neuromuscular Disorders : Nmd, 2017
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP et al.
Investigative Ophthalmology & Visual Science, 2016
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
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