Maïlys Guillard

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Dirk J. Lefeber, Johannes L. Schönberger, Éva Morava et al. · The American Journal of Human Genetics · 2009 · 197 citations · Full text

Biosynthesis, Mendelian Disorder, Biochemistry +9

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

Maïlys Guillard, Éva Morava, Floris L. van Delft et al. · Clinical Chemistry · 2011 · 65 citations · Full text

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

Éva Morava, H N Wosik, Jolanta Sykut‐Cegielska et al. · British Journal of Ophthalmology · 2008 · 64 citations

Intellectual disability and bleeding diathesis due to deficient CMP–sialic acid transport

Miski Mohamed, Angel Ashikov, Maïlys Guillard et al. · Neurology · 2013 · 54 citations

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

Gerben Truin, Maïlys Guillard, Dirk J. Lefeber et al. · Molecular Genetics and Metabolism · 2008 · 50 citations

Physiology, Gastroenterology, Congenital Disorder +4