CEREBROHEPATORENAL (ZELLWEGER) SYNDROME - CLINICAL, NEUROPATHOLOGICAL, AND BIOCHEMICAL FINDINGS

Authors
PUESCHEL SM OYER CE
Citation
Sm. Pueschel et Ce. Oyer, CEREBROHEPATORENAL (ZELLWEGER) SYNDROME - CLINICAL, NEUROPATHOLOGICAL, AND BIOCHEMICAL FINDINGS, Child's nervous system, 11(11), 1995, pp. 639-642
Citations number
16
Categorie Soggetti
Neurosciences,Pediatrics
Journal title
Child's nervous system → ACNP
ISSN journal
02567040
Volume
11
Issue
11
Year of publication
1995
Pages
639 - 642
Database
ISI
SICI code
0256-7040(1995)11:11<639:C(S-CN>2.0.ZU;2-P
Abstract
An infant with Zellweger syndrome is reported. A detailed description of the clinical findings is provided. In particular, the neuropatholog ical aspects are highlighted and the underlying biochemical derangemen ts discussed. In addition, some of the known pathogenetic mechanisms t hat are involved in producing the phenotype of Zellweger syndrome are analyzed.