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Capillary Gas Chromatography of Urine Samples in Diagnosing Cerebrotendinous Xanthomatosis
Jan N. Bouwes Bavinck, MD;
Bert J. Vermeer, MD, PhD;
Jan A. Gevers Leuven, MD;
Berend J. Koopman, PhD;
Bert G. Wolthers, PhD
Arch Dermatol. 1986;122(11):1269-1272.
Abstract
• A patient is described with many clinical features of cerebrotendinous xanthomatosis (CTX), but with only slightly elevated cholestanol/cholesterol concentration ratios in serum and xanthomatous tissue. However, with capillary gas chromatographic determinations of urinary bile acids and bile alcohols we demonstrated the typical biochemical abnormalities as seen in CTX patients. This article emphasizes the value of urinary capillary gas chromatography as a specific test to establish the diagnosis of CTX and to monitor the biochemical effectivity of the different treatment regimens.
(Arch Dermatol 1986;122:1269-1272)
Author Affiliations
From the Department of Dermatology, University Medical Center, Leiden (Drs Bouwes Bavinck and Vermeer), Gaubius Institute, TNO, Leiden (Dr Gevers Leuven), and Central Laboratory for Clinical Chemistry, Groningen (Drs Koopman and Wolthers), the Netherlands.
Footnotes
Accepted for publication Feb 27, 1986.
Reprint requests to Department of Dermatology, University Medical Center, PO Box 9600,2300 RC Leiden, the Netherlands (Dr Bouwes Bavinck).
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ABSTRACT
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