76 Impaired Cholesterol Side Chain Cleavage in Patients without Peroxisomes (zellweger Syndrome)

Abstract

Di- and trihydroxycoprostanoic acid (D-, THCA), normal intermediates of bile acid synthesis in man, are usually undetectable in normal serum. Very high levels however are found in the serum of patients with Zellweger Syndrome (ZS), an entity in which the absence of morphologically distinquishable peroxisomes can be considered as the most conspicous finding… (More)
DOI: 10.1203/00006450-198610000-00130

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