Hubert Carchon

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Jaak Jaeken, Harry Schachter, Hubert Carchon et al. · Archives of Disease in Childhood · 1994 · 192 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaak Jaeken, Gert Matthijs, Rita Barone et al. · Journal of Medical Genetics · 1997 · 191 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +15

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

J Jaeken, Michel Detheux, Lionel Van Maldergem et al. · Archives of Disease in Childhood · 1996 · 181 citations · Full text

Life Sciences, Neuroscience, Pediatrics +17

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

Life Sciences, Biochemistry, Molecular Biology +14

Diagnosis of Congenital Disorders of Glycosylation by Capillary Zone Electrophoresis of Serum Transferrin

Hubert Carchon, R Chevigné, Jean‐Bernard Falmagne et al. · Clinical Chemistry · 2004 · 99 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15