Glycogenoses

Latest Articles

Article
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
Laurike Harlaar, Jean-Yves Hogrel, Barbara Perniconi, et al.

Neurology October 16, 2019
Article
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.

Neurology Genetics December 18, 2017
Article
Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency
Mads Godtfeldt Stemmerik, Karen Lindhardt Madsen, Pascal Laforêt, et al.

Neurology November 15, 2017
Article
Long-term benefit of enzyme replacement therapy in Pompe diseaseA 5-year prospective study
Esther Kuperus, Michelle E. Kruijshaar, Stephan C.A. Wens, et al.

Neurology November 08, 2017