Carbohydrate-deficient glycoprotein syndrome type II.

Jaeken, J.; De Cock, P.; Stibler, H.; Van Geet, C.; Kint, J.; RAMAEKERS, Vincent; Carchon, H.

doi:10.1007/BF00711522

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Article (Scientific journals)

Carbohydrate-deficient glycoprotein syndrome type II.

Jaeken, J.; De Cock, P.; Stibler, H. et al.

1993 • In Journal of Inherited Metabolic Disease, 16 (6), p. 1041

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/168821

DOI
10.1007/BF00711522

PubMed
8127054

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Keywords :

Carbohydrate Metabolism, Inborn Errors/classification/genetics; Child; Glycoproteins/deficiency; Humans; Male; Syndrome

Disciplines :

Neurology
Pediatrics

Author, co-author :

Jaeken, J.; Department of Pediatrics, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven,

De Cock, P.; Department of Pediatrics, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven,

Stibler, H.; Department of Neurology, Karolinska Institute, Stockholm, Sweden

Van Geet, C.; Department of Pediatrics, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven,

Kint, J.; Department of Pediatrics, University of Ghent, Belgium

RAMAEKERS, Vincent ; Department of Neuropediatrics, Technical > Centre de référence de l'autisme

Carchon, H.; Department of Pediatrics, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium

Language :

English

Title :

Carbohydrate-deficient glycoprotein syndrome type II.

Publication date :

1993

Journal title :

Journal of Inherited Metabolic Disease

ISSN :

0141-8955

eISSN :

1573-2665

Publisher :

Kluwer Academic Publishers, Netherlands

Volume :

Issue :

Pages :

1041

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 07 June 2014

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Bibliography

Jaeken J., Stibler H., Hagberg B. (1991) The carbohydrate-deficient glycoprotein syndrome: a new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand Suppl 375:1-71.
Ramaekers V.T., Stibler H., Kint J., Jaeken J. (1991) A new variant of the carbohydrate-deficient glycoproteins syndrome. J Inher Metab Dis 14:385-388.
Stibler H., Westerberg B., Hanefeld F., Hagberg B. (1993) Carbohydrate-deficient glycoprotein (CDG) syndrome — a new variant type III. Neuropediatrics 24:51-52.