Literature DB >> 1149311

The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome.

K W Gilchrist, E F Gilbert, N T Shahidi, J M Opitz.   

Abstract

A brief overview of the clinicopathologic findings in the cerebro-hepato-renal syndrome of Zellweger (ZS) is presented. In order to understand more clearly the many diverse features of the ZS condition, a guideline is suggested for evaluation of a ZS infant in terms of physical features, family history, clinical pathophysiologic parameters, biopsy specimens, and postmortem procedures. The references provide rationale pertinent to the subject of discussion and/or furnish comments upon technical aspects for performance of analytical procedures.

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Year:  1975        PMID: 1149311     DOI: 10.1111/j.1399-0004.1975.tb00350.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  7 in total

Review 1.  Zellweger syndrome and associated phenotypes.

Authors:  D R FitzPatrick
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin A.

Authors:  R I Kelley; B E Corkey
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

3.  Zellweger syndrome: A cause of neonatal hypotonia and seizures.

Authors:  Abdelmoneim E M Kheir
Journal:  Sudan J Paediatr       Date:  2011

4.  Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.

Authors:  L Govaerts; L Monnens; W Tegelaers; F Trijbels; A van Raay-Selten
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

5.  Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.

Authors:  I Singh; A E Moser; S Goldfischer; H W Moser
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

6.  Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

Authors:  J M Trijbels; L A Monnens; J A Bakkeren; A H Van Raay-Selten; J M Corstiaensen
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

7.  [Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report].

Authors:  J Müller-Höcker; K Bise; W Endres; G Hübner
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1981
  7 in total

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