The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome*
- 23 April 2008
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 7 (5) , 413-416
- https://doi.org/10.1111/j.1399-0004.1975.tb00350.x
Abstract
A brief overview of the clinicopathologic findings in the cerebro-hepato-renal syndrome of Zellweger (ZS) is presented. In order to understand more clearly the many diverse features of the ZS condition, a guideline is suggested for evaluation of a ZS infant in terms of physical features, family history, clinical pathophysiologic parameters, biopsy specimens, and postmortem procedures. The references provide rationale pertinent to the subject of discussion and/or furnish comments upon technical aspects for performance of analytical procedures.Keywords
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