Glycogenoses

Latest Articles

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
Clinical/Scientific Notes
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease
Yasuo Harigaya, Takashi Matsukawa, Yukio Fujita, et al.

Neurology Genetics February 24, 2017