Genetic Heterogeneity in Inherited Disorders with a Generalized Impairment of Peroxisomal Functions: Visualization by Immunofluorescence Microscopy of Peroxisome Assembly After ... View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1989

AUTHORS

S. Brul , E. A. C. Wiemer , M. Oosthuizen , A. Westerveld , R. Van Driel , A. Strijland , R. B. H. Schutgens , H. Van Den Bosch , R. J. A. Wanders , A. W. Schram , J. M. Tager

ABSTRACT

The cerebro-hepato-renal (Zellweger) syndrome is a rare familial disease that is characterized by a variety of biochemical and clinical aberrations [1–6]. The most striking biochemical abnormality in this disorder is the absence of morphologically distinguishable peroxisomes [7], and the deficiency of several peroxisomal enzymes [2–6] and enzyme proteins [8], In recent years other inherited diseases in man have been recognized in which there is a generalized impairment of peroxisomal functions [2–6,9,10]. These diseases include the infantile form of Refsum disease (IRD), the neonatal form of adrenoleukodystrophy (NALD) and hyperpipecolic acidaemia [2–6,9,10]. The existence of such diseases, which usually result in early death of the patients, stresses the importance of peroxisomes in cellular metabolism [9,10]. More... »

PAGES

420-428

Book

TITLE

Molecular Basis of Membrane-Associated Diseases

ISBN

978-3-642-74417-4
978-3-642-74415-0

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-642-74415-0_35

DOI

http://dx.doi.org/10.1007/978-3-642-74415-0_35

DIMENSIONS

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