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Literature DB >> 1405475

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

H Mandel¹, M Berant, A Aizin, R Gershony, S Hemmli, R B Schutgens, R J Wanders.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1992 PMID： 1405475 DOI： 10.1007/bf02435982

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

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11 in total

1. 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

2. Separate peroxisomal oxidases for fatty acyl-CoAs and trihydroxycoprostanoyl-CoA in human liver.

Authors: M Casteels; L Schepers; P P Van Veldhoven; H J Eyssen; G P Mannaerts
Journal: J Lipid Res Date: 1990-10 Impact factor: 5.922

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

Review 4. Peroxisomal diseases.

Authors: H W Moser
Journal: Adv Pediatr Date: 1989

5. 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 6. 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

7. 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

8. Peroxisomal bifunctional enzyme deficiency.

Authors: P A Watkins; W W Chen; C J Harris; G Hoefler; S Hoefler; D C Blake; A Balfe; R I Kelley; A B Moser; M E Beard
Journal: J Clin Invest Date: 1989-03 Impact factor: 14.808

9. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

Authors: B T Poll-The; F Roels; H Ogier; J Scotto; J Vamecq; R B Schutgens; R J Wanders; C W van Roermund; M J van Wijland; A W Schram
Journal: Am J Hum Genet Date: 1988-03 Impact factor: 11.025

10. 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

8 in total

Review 1. 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

2. 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

8. 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