PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal DysplasiaAsbjørg Stray‐Pedersen, I. Celine Hanson, Niti Chokshi et al.|The American Journal of Human Genetics|2014Cited by 183
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiencyPatricia Hall, Kimiyo Raymond, Christina Lam et al.|Molecular Genetics and Metabolism|2018Cited by 43