Linked Life Data

12069541

Source:http://linkedlifedata.com/resource/pubmed/id/12069541

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-6-18
pubmed:abstractText
Peroxisomes are subcellular organelles catalyzing a number of indispensable functions in cellular metabolism. The importance of peroxisomes is stressed by the existence of an expanding number of genetic diseases in which there is an impairment of one or more peroxisomal functions. The prototype of this group of diseases is the cerebro-hepato-renal syndrome of Zellweger (ZS), first described as a familial syndrome of multiple congenital defects in 1964. ZS is characterized by the presence of dysmorphias and polymalformative syndrome, severe neurologic abnormalities including neurosensory defects and hepato-intestinal dysfunction with failure to thrive and usually early death. Other peroxisomal disorders share some of these symptoms, but with varying degrees of organ involvement, severity of dysfunction and duration of survival. This paper provides an overview of the peroxisomal disorders including their clinical, biochemical and molecular characteristics with particular emphasis on the clinical presentation in neonates.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1084-2756
pubmed:author
pubmed:copyrightInfo
Copyright 2002 Published by Elsevier Science Ltd.
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
85-94
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Peroxisomal disorders.
pubmed:affiliation
Metabolic Unit, University Children's Hospital, Basel, Switzerland. Matthias.Baumgartner@unibas.ch
pubmed:publicationType
Journal Article, Review