Dulce Quelhas

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 · 181 citations · Full text

Uncharacterized Congenital Disorder, Genetics, Glycobiology +21

Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis

Michael Butler, Dulce Quelhas, Alison J. Critchley et al. · Glycobiology · 2003 · 157 citations · Full text

Glycobiology, Pathology, Polysaccharide +19

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Ellen Reynders, François Foulquier, Elisa Leão Teles et al. · Human Molecular Genetics · 2009 · 134 citations · Full text

Immunology, Glycobiology, Pathology +18

Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

Júlio César Rocha, Francjan J. van Spronsen, Manuela Almeida et al. · Molecular Genetics and Metabolism · 2012 · 99 citations

Obesity, Metabolic Syndrome, Nutrition +12

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Abnormal Protein Glycosylation, Biochemistry, Disease Mechanism +11