Literature DB >> 1770791

Di- and trihydroxycholestanaemia in twin sisters.

R J Wanders1, C W van Roermund, A Schelen, R B Schutgens, J Zeman, V Kozich, J Hyanek, M Casteels, G P Mannaerts.   

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Year:  1991        PMID： 1770791     DOI： 10.1007/bf01811702

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


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  9 in total

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

Authors:  E Christensen; J Van Eldere; N J Brandt; R B Schutgens; R J Wanders; H J Eyssen
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Di- and trihydroxycholestanoic acidaemia with hepatic failure.

Authors:  H Przyrembel; R J Wanders; C W van Roermund; R B Schutgens; G P Mannaerts; M Casteels
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 3.  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

4.  Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases.

Authors:  M Casteels; C W Van Roermund; L Schepers; L Govaert; H J Eyssen; G P Mannaerts; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  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

6.  Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.

Authors:  B F Kase; I Björkhem; P Hågå; J I Pedersen
Journal:  J Clin Invest       Date:  1985-02       Impact factor: 14.808

7.  X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters.

Authors:  R J Wanders; C W van Roermund; M J van Wijland; A A Nijenhuis; A Tromp; R B Schutgens; E M Brouwer-Kelder; A W Schram; J M Tager; H van den Bosch
Journal:  Clin Chim Acta       Date:  1987-06-15       Impact factor: 3.786

8.  Subcellular localization of 3 alpha, 7 alpha-dihydroxy- and 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoyl-coenzyme A ligase(s) in rat liver.

Authors:  K Prydz; B F Kase; I Björkhem; J I Pedersen
Journal:  J Lipid Res       Date:  1988-08       Impact factor: 5.922

9.  Subcellular distribution and characteristics of trihydroxycoprostanoyl-CoA synthetase in rat liver.

Authors:  L Schepers; M Casteels; K Verheyden; G Parmentier; S Asselberghs; H J Eyssen; G P Mannaerts
Journal:  Biochem J       Date:  1989-01-01       Impact factor: 3.857
  9 in total
  4 in total

Review 1.  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 2.  Clinical and biochemical characteristics of peroxisomal disorders: an update.

Authors:  R J Wanders; P G Barth; R B Schutgens; J M Tager
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

Review 3.  Inborn errors of bile acid metabolism.

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

4.  [Congenital alacrima revealing a Allgrove syndrome: report of three cases].

Authors:  Rajae Derrar; Nourredinne Boutimzine; Amina Laghmari; Amal Alouane; Rajae Daoudi
Journal:  Pan Afr Med J       Date:  2015-04-14
  4 in total

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