Article (Scientific journals)
A new variant of the carbohydrate deficient glycoproteins syndrome.
RAMAEKERS, Vincent; Stibler, H.; Kint, J. et al.
1991In Journal of Inherited Metabolic Disease, 14 (3), p. 385-8
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Keywords :
Carbohydrate Metabolism, Inborn Errors/metabolism/pathology; Electromyography; Evoked Potentials/physiology; Female; Galactosemias/blood; Glycoproteins/blood/metabolism; Hexosamines/blood; Humans; Infant; Isoelectric Focusing; Liver/pathology; Magnetic Resonance Imaging; Mannose/blood; Sialic Acids/blood; Transferrin/metabolism
Disciplines :
Neurology
Pediatrics
Author, co-author :
RAMAEKERS, Vincent ;  Department of Neuropaediatrics, Technical University of Aachen, Pauwelstrasse 30, Aachen, D-5100, Germany
Stibler, H.;  Department of Neurology, Karolinska Institute, Stockholm, Sweden
Kint, J.;  Department of Paediatrics, University of Ghent, Belgium
Jaeken, J.;  Department of Paediatrics, University of Leuven, Belgium
Language :
English
Title :
A new variant of the carbohydrate deficient glycoproteins syndrome.
Publication date :
May 1991
Journal title :
Journal of Inherited Metabolic Disease
ISSN :
0141-8955
eISSN :
1573-2665
Publisher :
Kluwer Academic Publishers, Netherlands
Volume :
14
Issue :
3
Pages :
385-8
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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