Glycogenoses

Latest Articles

Article
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic PracticesThe IPaNeMA Study
Marie Wencel, Aziz Shaibani, Namita A. Goyal, et al.

Neurology Genetics October 18, 2021
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