Literature DB >> 8092875

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.

C Vanhole1, F de Zegher, P Casaer, H Devlieger, R J Wanders, G Vanhove, J Jaeken.   

Abstract

A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.

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Year:  1994        PMID： 8092875      PMCID： PMC1061072          DOI： 10.1136/fn.71.1.f55

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN： 1359-2998            Impact factor:   5.747


  5 in total

1.  Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders.

Authors:  R J Wanders; C W van Roermund; M J van Wijland; J Heikoop; R B Schutgens; A W Schram; J M Tager; H van den Bosch; B T Poll-Thé; J M Saudubray
Journal:  Clin Chim Acta       Date:  1987-07-15       Impact factor: 3.786

Review 2.  Postnatal diagnosis of peroxisomal disorders: a biochemical approach.

Authors:  R J Wanders; R B Schutgens; P G Barth; J M Tager; H van den Bosch
Journal:  Biochimie       Date:  1993       Impact factor: 4.079

Review 3.  Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

Authors:  R I Kelley; N S Datta; W B Dobyns; A K Hajra; A B Moser; M J Noetzel; E H Zackai; H W Moser
Journal:  Am J Med Genet       Date:  1986-04

4.  The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney.

Authors:  G F Vanhove; P P Van Veldhoven; M Fransen; S Denis; H J Eyssen; R J Wanders; G P Mannaerts
Journal:  J Biol Chem       Date:  1993-05-15       Impact factor: 5.157

Review 5.  Adrenoleukodystrophy.

Authors:  H W Moser; A Bergin; S Naidu; P W Ladenson
Journal:  Endocrinol Metab Clin North Am       Date:  1991-06       Impact factor: 4.741
  5 in total
  2 in total

Review 1.  Secondary alterations of human hepatocellular peroxisomes.

Authors:  D De Craemer
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

2.  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
  2 in total

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