Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams

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Neurology of inherited glycosylation disorders

Hudson H. Freeze, Erik A. Eklund, Bobby G. Ng et al. · The Lancet Neurology · 2012 · 205 citations · Full text

Life Sciences, Genetics, Neurology +7

A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

Claudine M. De Praeter, Gerrit J. Gerwig, Ernst Bause et al. · The American Journal of Human Genetics · 2000 · 191 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

CDG nomenclature: Time for a change!

Jaak Jaeken, Thierry Hennet, Gert Matthijs et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2009 · 168 citations

Life Sciences, Change Management, Documentation +6

<i>O</i> ‐GlcNAcylation stabilizes β‐catenin through direct competition with phosphorylation at threonine 41

Stéphanie Olivier‐Van Stichelen, Vanessa Dehennaut, Armelle Buzy et al. · The FASEB Journal · 2014 · 151 citations · Full text

Medicine, Cancer Biology, Oncology +12