doi: 10.1016/s0022-3476(75)80967-x.
Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism
- PMID: 1113225
- DOI: 10.1016/s0022-3476(75)80967-x
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Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism
J Pediatr.
1975 Mar.
Abstract
Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile ducts as previously suggested. Elevated levels of pipecolic acid were found in blood and urine and may be related to the basic defect.
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