Literature DB >> 2122101

A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.

E Christensen1, J Van Eldere, N J Brandt, R B Schutgens, R J Wanders, H J Eyssen.   

Abstract

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Year:  1990        PMID： 2122101     DOI： 10.1007/bf01799396

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

Review 1.  The inborn errors of peroxisomal beta-oxidation: a review.

Authors:  R J Wanders; C W van Roermund; R B Schutgens; P G Barth; H S Heymans; H van den Bosch; J M Tager
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Bile acids in peroxisomal disorders.

Authors:  J R Van Eldere; G G Parmentier; H J Eyssen; R J Wanders; R B Schutgens; J Vamecq; F Van Hoof; B T Poll-The; J M Saudubray
Journal:  Eur J Clin Invest       Date:  1987-10       Impact factor: 4.686

3.  [Refsum's disease. Hereditary atactic polyneuritis].

Authors:  N J Brandt; E Christensen; T Rosenberg
Journal:  Ugeskr Laeger       Date:  1989-02-06

Review 4.  Peroxisomal disorders in neurology.

Authors:  R J Wanders; H S Heymans; R B Schutgens; P G Barth; H van den Bosch; J M Tager
Journal:  J Neurol Sci       Date:  1988-12       Impact factor: 3.181

5.  Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.

Authors:  R B Schutgens; G J Romeyn; R Ofman; H van den Bosch; J M Tager; R J Wanders
Journal:  Biochim Biophys Acta       Date:  1986-12-05

6.  The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.

Authors:  G Schrakamp; R B Schutgens; R J Wanders; H S Heymans; J M Tager; H Van den Bosch
Journal:  Biochim Biophys Acta       Date:  1985-01-09
  6 in total
  8 in total

1.  Di- and trihydroxycholestanaemia in twin sisters.

Authors:  R J Wanders; C W van Roermund; A Schelen; R B Schutgens; J Zeman; V Kozich; J Hyanek; M Casteels; G P Mannaerts
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.

Authors:  J S Sequeira; A Vellodi; M T Vanier; P T Clayton
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

Review 3.  Diagnostic work-up of a peroxisomal patient.

Authors:  J G Leroy; M Espeel; J F Gadisseux; H Mandel; M Martinez; B T Poll-The; R J Wanders; F Roels
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 4.  Biochemistry of peroxisomes in health and disease.

Authors:  I Singh
Journal:  Mol Cell Biochem       Date:  1997-02       Impact factor: 3.396

5.  Activity measurements of acyl-CoA oxidases in human liver.

Authors:  P P Van Veldhoven
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation.

Authors:  P T Clayton; A W Johnson; K A Mills; G W Lynes; J Wilson; M Casteels; G Mannaerts
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 7.  Peroxisomal disorders: a review.

Authors:  B Fournier; J A Smeitink; L Dorland; R Berger; J M Saudubray; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 8.  Inborn errors of bile acid metabolism.

Authors:  P T Clayton
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  8 in total

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