Els Schollen

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 365 citations

Life Sciences, Genetics, Molecular Genetics +11

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

François Foulquier, Mustapha Amyere, Jaak Jaeken et al. · The American Journal of Human Genetics · 2012 · 206 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

François Foulquier, Eliza Vasile, Els Schollen et al. · Proceedings of the National Academy of Sciences · 2006 · 182 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Timo Imbach, Barbara Schenk, Els Schollen et al. · Journal of Clinical Investigation · 2000 · 177 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Gert Matthijs, Els Schollen, Cecilia Bjursell et al. · Human Mutation · 2000 · 163 citations

Life Sciences, Genetics, Molecular Genetics +9