Multiple Phenotypes in Phosphoglucomutase 1 DeficiencyLaura C. Tegtmeyer, Thorsten Marquardt, Anika Witten et al.|New England Journal of Medicine|2014Cited by 287
Mutations in STT3A and STT3B cause two congenital disorders of glycosylationShiteshu Shrimal, Hudson H. Freeze, B. G. Ng et al.|Human Molecular Genetics|2013Cited by 86
The Metabolic Origins of Mannose in GlycoproteinsMie Ichikawa, Hudson H. Freeze, David A. Scott et al.|Journal of Biological Chemistry|2014Cited by 81
DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of GlycosylationMelanie A. Jones, Madhuri Hegde, Bobby Ng et al.|The American Journal of Human Genetics|2012Cited by 77
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complexMarie‐Estelle Losfeld, Hudson H. Freeze, B. G. Ng et al.|Human Molecular Genetics|2013Cited by 72