Literature DB >> 7545216

Peroxisomal disorders: a review.

R J Wanders1, R B Schutgens, P G Barth.   

Abstract

The peroxisomal disorders represent a group of inherited diseases in man in which there is an impairment in one or more peroxisomal functions. The disorders known up to now are usually subdivided into three groups depending upon whether there is a more generalized, multiple or single loss of peroxisomal functions. In this paper we will briefly describe the peroxisomal disorders known thus far with the biochemical abnormalities identified. Furthermore, we will describe a straightforward approach for the postnatal identification of patients suspected to suffer from a peroxisomal disorder which is of great importance since reliable prenatal diagnostic methods have become available for each of these disorders.

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Year:  1995        PMID: 7545216     DOI: 10.1097/00005072-199509000-00016

Source DB:  PubMed          Journal:  J Neuropathol Exp Neurol        ISSN: 0022-3069            Impact factor:   3.685


  28 in total

1.  Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders.

Authors:  A H Bootsma; H Overmars; A van Rooij; A E van Lint; R J Wanders; A H van Gennip; P Vreken
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency).

Authors:  R J Wanders; P A Mooijer; C Dekker; Y Suzuki; N Shimozawa
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

Review 3.  Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Authors:  R J Wanders
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

4.  Pex15p of Saccharomyces cerevisiae provides a molecular basis for recruitment of the AAA peroxin Pex6p to peroxisomal membranes.

Authors:  Ingvild Birschmann; An K Stroobants; Marlene van den Berg; Antje Schäfer; Katja Rosenkranz; Wolf-H Kunau; Henk F Tabak
Journal:  Mol Biol Cell       Date:  2003-03-07       Impact factor: 4.138

5.  A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.

Authors:  E Christensen; S A Pedersen; H Leth; C Jakobs; R B Schutgens; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

6.  Demonstration and characterization of phosphate transport in mammalian peroxisomes.

Authors:  Wouter F Visser; Carlo W Van Roermund; Lodewijk Ijlst; Klaas J Hellingwerf; Ronald J A Wanders; Hans R Waterham
Journal:  Biochem J       Date:  2005-08-01       Impact factor: 3.857

7.  X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.

Authors:  R J Wanders; P W Mooyer; C Dekker; P Vreken
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

8.  Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.

Authors:  E G Van Grunsven; E van Berkel; H Lemonde; P T Clayton; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

9.  Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.

Authors:  R J Wanders; G J Romeijn
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

10.  Phytol-induced hepatotoxicity in mice.

Authors:  John T Mackie; Barbara P Atshaves; H Ross Payne; Avery L McIntosh; Friedhelm Schroeder; Ann B Kier
Journal:  Toxicol Pathol       Date:  2009-02-02       Impact factor: 1.902

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