Literature DB >> 1357231

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.

R J Wanders1, C W van Roermund, S Brul, R B Schutgens, J M Tager.   

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Year:  1992        PMID： 1357231     DOI： 10.1007/bf02435983

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


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  9 in total

1.  First prenatal diagnosis of acyl-CoA oxidase deficiency.

Authors:  R J Wanders; A Schelen; N Feller; R B Schutgens; F Stellaard; C Jakobs; B Mitulla; G Seidlitz
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  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

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

Authors:  P T Clayton; 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
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

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.  Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids.

Authors:  M C McGuinness; A B Moser; H W Moser; P A Watkins
Journal:  Biochem Biophys Res Commun       Date:  1990-10-15       Impact factor: 3.575

6.  Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course.

Authors:  P G Barth; R J Wanders; R B Schutgens; E M Bleeker-Wagemakers; D van Heemstra
Journal:  Eur J Pediatr       Date:  1990-07       Impact factor: 3.183

7.  Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder.

Authors:  M J Bennett; R J Pollitt; S I Goodman; D E Hale; J Vamecq
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

8.  Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.

Authors:  S Brul; A Westerveld; A Strijland; R J Wanders; A W Schram; H S Heymans; R B Schutgens; H van den Bosch; J M Tager
Journal:  J Clin Invest       Date:  1988-06       Impact factor: 14.808

9.  Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.

Authors:  S Naidu; G Hoefler; P A Watkins; W W Chen; A B Moser; S Hoefler; N E Rance; J M Powers; M Beard; W R Green
Journal:  Neurology       Date:  1988-07       Impact factor: 9.910
  9 in total
  9 in total

1.  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

2.  Immunocytochemical localization of peroxisomal proteins in human liver and kidney.

Authors:  M Espeel; G Van Limbergen
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.

Authors:  R J Wanders; R Ofman; G J Romeijn; R B Schutgens; P A Mooijer; C Dekker; H van den Bosch
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts.

Authors:  R J Wanders; S Denis; J P Ruiter; R B Schutgens; C W van Roermund; B S Jacobs
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.

Authors:  S Fukuda; Y Suzuki; N Shimozawa; Z Zhang; T Orii; T Aoyama; T Hashimoto; N Kondo
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

Review 6.  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

7.  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

8.  Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.

Authors:  B C Paton; P C Sharp; D I Crane; A Poulos
Journal:  J Clin Invest       Date:  1996-02-01       Impact factor: 14.808

9.  Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

Authors:  E G van Grunsven; E van Berkel; P A Mooijer; P A Watkins; H W Moser; Y Suzuki; L L Jiang; T Hashimoto; G Hoefler; J Adamski; R J Wanders
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025
  9 in total

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