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Title: The carbohydrate-deficient glycoprotein syndromes: an overview
Authors: Jaeken, Jacques ×
Carchon, Hubert #
Issue Date: Jan-1993
Series Title: Journal of Inherited Metabolic Disease vol:16 issue:5 pages:813-20
Abstract: The carbohydrate-deficient glycoprotein (CDG) syndromes are a newly recognized family of diseases with autosomal recessive inheritance. The basic defects are probably in the glycosylation pathway (endoplasmic reticulum, Golgi apparatus or post-Golgi). In the present state of our knowledge the central nervous system is always severely affected but nearly all other organs are involved to a variable degree. Like the peroxisomal disorders they also comprise dysmorphic features, the most typical being an abnormal distribution of subcutaneous adipose tissue. A reliable diagnostic test is isoelectric focusing of serum transferrin showing a cathodal shift as a consequence of the partial sialic acid deficiency. Prenatal diagnosis and heterozygote detection are not yet available. These diseases should be differentiated from secondary CDG syndromes such as classical galactosaemia.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Brain & Metabolism Section (-)
× corresponding author
# (joint) last author

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