Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/32918
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Type: Journal article
Title: Carbohydrate-deficient glycoprotein syndrome: Beyond the screen
Author: Fletcher, J.
Matthijs, G.
Jaeken, J.
Van Schaftingen, E.
Nelson, P.
Citation: Journal of Inherited Metabolic Disease, 2000; 23(4):396-398
Publisher: Kluwer Academic Publ
Issue Date: 2000
ISSN: 0141-8955
1573-2665
Statement of
Responsibility: 
J. M. Fletcher, G. Matthijs, J. Jaeken, E. Van Schaftingen and P. V. Nelson
Abstract: We report two siblings with carbohydrate-deficient glycoprotein syndrome (CDG) type 1 (McKusick 212065) secondary to phosphomannomutase deficiency, both of whom have repeatedly normal transferrin isoform screening tests.
Keywords: Cells, Cultured
Fibroblasts
Humans
Phosphotransferases (Phosphomutases)
Transferrin
Isoelectric Focusing
Child
Infant
Female
beta-N-Acetylhexosaminidases
Congenital Disorders of Glycosylation
DOI: 10.1023/A:1005660004047
Appears in Collections:Aurora harvest
Paediatrics publications

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