Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Pascale de Lonlay, Nathalie Séta, Sandrine Vuillaumier Barrot et al. · Journal of Medical Genetics · 2001 · 224 citations · Full text

Life Sciences, Genetics, Molecular Biology +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

Congenital disorders of glycosylation (CDG): It's all in it!

Jaak Jaeken · Journal of Inherited Metabolic Disease · 2003 · 142 citations

Life Sciences, Biochemistry, Molecular Genetics +11

Evaluation of the use of BioGlue® in neurosurgical procedures

Arun Kumar, Nicholas F. Maartens, Andrew H. Kaye · Journal of Clinical Neuroscience · 2003 · 117 citations

Medicine, Neurosurgery, Surgery +7

Endocrinology of the Carbohydrate-Deficient Glycoprotein Syndrome Type 1 from Birth through Adolescence

Francis de Zegher, Jaak Jaeken · Pediatric Research · 1995 · 98 citations

Medicine, Endocrinology, Pediatrics +12