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Title: Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome)
Authors: Eyssen, Hendrik ×
Eggermont, Ephrem
Van Eldere, Johan
Jaeken, Jacques
Parmentier, Guido
Janssen, Gerardus #
Issue Date: Jul-1985
Series Title: Acta paediatrica Scandinavica vol:74 issue:4 pages:539-44
Abstract: The Zellweger or cerebro-hepato-renal syndrome (CHRS) is a congenital disorder characterized by cerebral dysfunction, craniofacial dysmorphic features, transient cholestasis and renal cysts. Patients fail to thrive, and usually die in their first year of life. In some cases, a definite diagnosis on purely clinical signs might not be possible. Several biochemical abnormalities have been observed in these patients and some of them have been tested as diagnostic markers. The aim of this study is to evaluate bile acid metabolites as biochemical markers of the CHRS. From a study of 20 CHRS patients, we conclude that screening for the presence of coprostanic acids and the C-29 dicarboxylic bile acid in serum or urine is for detection of CHRS and confirmation of the diagnosis.
ISSN: 0001-656X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Faculty of Medicine - miscellaneous
Section Child - Miscellaneous (-)
Medicinal Chemistry (Rega Institute)
Laboratory for Experimental and Clinical Microbiology (-)
Laboratory of Clinical Bacteriology and Mycology
× corresponding author
# (joint) last author

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