Valérie Race

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

François Foulquier, Mustapha Amyere, Jaak Jaeken et al. · The American Journal of Human Genetics · 2012 · 205 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +6

DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

Rita Barone, Chiara Aiello, Valérie Race et al. · Annals of Neurology · 2012 · 149 citations

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Claire Hart, Valérie Race, Younès Achouri et al. · The American Journal of Human Genetics · 2007 · 131 citations · Full text

Biosynthesis, Phosphoserine Aminotransferase Deficiency, Cellular Enzymology +9

Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype

Eline Blommaert, Romain Péanne, Daisy Rymen et al. · Proceedings of the National Academy of Sciences · 2019 · 88 citations · Full text

MAN1B1 Deficiency: An Unexpected CDG-II

Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón et al. · PLoS Genetics · 2013 · 87 citations · Full text

Metabolic Disorder, Genetics, Glycobiology +17