Cerebro-hepato-renal syndrome of zellweger: Clinical symptoms and relevant laboratory findings in 16 patients
- 1 October 1982
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 139 (2) , 125-128
- https://doi.org/10.1007/bf00441495
Abstract
The clinical features of 16 patients suffering from cerebro-hepato-renal syndrome are presented. Five of these children lived beyond 2 years. Four of them are still alive. The increase of pipecolic acid in serum and cerebrospinal fluid (CSF), the abnormality of the bile acids and the increased excretion of p-OH-phenyl lactate were a consistent finding. The concentration of pipecolic acid in urine was not always distinctly elevated. A loading test with DL-pipecolic acid was always abnormal.This publication has 19 references indexed in Scilit:
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