Literature DB >> 3141700

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.

P T Clayton1, B D Lake, M Hjelm, J B Stephenson, G T Besley, R J Wanders, A W Schram, J M Tager, R B Schutgens, A M Lawson.   

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Year:  1988        PMID： 3141700     DOI： 10.1007/bf01804226

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


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  7 in total

Review 1.  Peroxisomal disorders: a newly recognised group of genetic diseases.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H van den Bosch; J M Tager
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

2.  Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

Authors:  S Goldfischer; J Collins; I Rapin; P Neumann; W Neglia; A J Spiro; T Ishii; F Roels; J Vamecq; F Van Hoof
Journal:  J Pediatr       Date:  1986-01       Impact factor: 4.406

3.  Synthesis of four diastereoisomers at carbons 24 and 25 of 3 alpha,7 alpha,12 alpha,24-tetrahydroxy-5 beta-cholestan-26-oic acid, intermediates of bile acid biosynthesis.

Authors:  M Une; F Nagai; K Kihira; T Kuramoto; T Hoshita
Journal:  J Lipid Res       Date:  1983-07       Impact factor: 5.922

4.  Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

Authors:  A W Schram; S Goldfischer; C W van Roermund; E M Brouwer-Kelder; J Collins; T Hashimoto; H S Heymans; H van den Bosch; R B Schutgens; J M Tager
Journal:  Proc Natl Acad Sci U S A       Date:  1987-04       Impact factor: 11.205

5.  Bile acids. LXVII. The major bile acids of Varanus monitor.

Authors:  S S Ali; E Stephenson; W H Elliott
Journal:  J Lipid Res       Date:  1982-09       Impact factor: 5.922

6.  Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry.

Authors:  P T Clayton; B D Lake; N A Hall; D B Shortland; R A Carruthers; A M Lawson
Journal:  Eur J Pediatr       Date:  1987-03       Impact factor: 3.183

7.  Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts.

Authors:  A M Lawson; M J Madigan; D Shortland; P T Clayton
Journal:  Clin Chim Acta       Date:  1986-12-15       Impact factor: 3.786
  7 in total
  20 in total

1.  Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis.

Authors:  R J Wanders; C W van Roermund; S Brul; R B Schutgens; J M Tager
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids.

Authors:  H Mandel; M Berant; A Aizin; R Gershony; S Hemmli; R B Schutgens; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities.

Authors:  R J Wanders; C W van Roermund; A Schelen; R B Schutgens; J M Tager; J B Stephenson; P T Clayton
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

Authors:  Y Suzuki; L L Jiang; M Souri; S Miyazawa; S Fukuda; Z Zhang; M Une; N Shimozawa; N Kondo; T Orii; T Hashimoto
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

Review 5.  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

6.  Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

Authors:  P T Clayton; E Patel; A M Lawson; R A Carruthers; J Collins
Journal:  J Clin Invest       Date:  1990-04       Impact factor: 14.808

7.  Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Authors:  Matthew A Lines; Rebekah Jobling; Lauren Brady; Christian R Marshall; Stephen W Scherer; Amadeo R Rodriguez; Liesly Lee; Anthony E Lang; Tiago A Mestre; Ronald J A Wanders; Sacha Ferdinandusse; Mark A Tarnopolsky
Journal:  Neurology       Date:  2014-02-19       Impact factor: 9.910

8.  Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.

Authors:  R Santer; A Claviez; H D Oldigs; J Schaub; R B Schutgens; R J Wanders
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

9.  Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.

Authors:  Y Suzuki; N Shimozawa; S Yajima; S Tomatsu; N Kondo; Y Nakada; S Akaboshi; M Lai; Y Tanabe; T Hashimoto
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

10.  Metabolism of prostaglandin F2 alpha in Zellweger syndrome. Peroxisomal beta-oxidation is a major importance for in vivo degradation of prostaglandins in humans.

Authors:  U Diczfalusy; B F Kase; S E Alexson; I Björkhem
Journal:  J Clin Invest       Date:  1991-09       Impact factor: 14.808
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