Dirk J Lefeber

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.

Giuseppe Zanotti, Ernesto Carafoli, Enza Maria Valente, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Autosomal recessive cutis laxa syndrome revisited

Ron A Wevers, R. Wevers, E. Morava, 2009, European Journal of Human Genetics.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.

Ron A Wevers, Eva Morava, Suzan Wopereis, 2006, Clinical chemistry.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.