Cerebrohepatorenal (Zellweger) syndrome : clinical, neuropathological, and biochemical findings

An infant with Zellweger syndrome is reported. A detailed description of the clinical findings is provided. In particular, the neuropathological aspects are highlighted and the underlying biochemical derangements discussed. In addition, some of the known pathogenetic mechanisms that are involved in...

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Bibliographic Details
Published in:Child's nervous system 1995-11, Vol.11 (11), p.639-642
Main Authors: PUESCHEL, S. M, OYER, C. E
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Aberrations - genetics
Chromosome Disorders
Errors of metabolism
Fatal Outcome
Female
Humans
Infant, Newborn
Karyotyping
Liver - chemistry
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Peroxisomal Disorders - diagnosis
Phenotype
Zellweger Syndrome - diagnosis
Zellweger Syndrome - genetics
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Summary:An infant with Zellweger syndrome is reported. A detailed description of the clinical findings is provided. In particular, the neuropathological aspects are highlighted and the underlying biochemical derangements discussed. In addition, some of the known pathogenetic mechanisms that are involved in producing the phenotype of Zellweger syndrome are analyzed.
ISSN:0256-7040
1433-0350
DOI:10.1007/BF00300721