2023 - Research.com Biology and Biochemistry in Belgium Leader Award
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
Emile Van Schaftingen;Jaak Jaeken.
FEBS Letters (1995)
Congenital Disorders of Glycosylation
Annals of the New York Academy of Sciences (2010)
Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90
J Jaeken;M Vanderschueren-Lodeweyckx;P Casaer;L Snoeck.
Pediatric Research (1980)
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
J. Jaeken;H.G. van Eijk;C. van der Heul;L. Corbeel.
Clinica Chimica Acta (1984)
Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family
Jaak Jaeken;Gert Matthijs.
Annual Review of Genomics and Human Genetics (2007)
Inherited disorders of GABA metabolism.
C. Jakobs;J. Jaeken;K. M. Gibson.
Journal of Inherited Metabolic Disease (1993)
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Laura C. Tegtmeyer;Stephan Rust;Monique van Scherpenzeel;Bobby G. Ng.
The New England Journal of Medicine (2014)
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay;N Seta;S Barrot;B Chabrol.
Journal of Medical Genetics (2001)
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
J Jaeken;H Schachter;H Carchon;P De Cock.
Archives of Disease in Childhood (1994)
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;D. Quelhas;Alison J. Critchley;Hubert Carchon.
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