Literature DB >> 7807943

Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders.

S J Steinberg1, A H Fensom, N R Dalton, P A Toseland, C R Kennedy, A P Mowat.   

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Year:  1994        PMID： 7807943     DOI： 10.1007/bf00711819

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


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  8 in total

1.  The efficacy of very long-chain fatty acid analysis in the diagnosis of peroxisomal disorders: an audit report.

Authors:  R A Harkness; G W Lynes; A W Johnson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Prenatal diagnosis of rhizomelic chondrodysplasia punctata.

Authors:  S Hoefler; G Hoefler; A B Moser; P A Watkins; W W Chen; H W Moser
Journal:  Prenat Diagn       Date:  1988-10       Impact factor: 3.050

Review 3.  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

4.  The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection.

Authors:  A Roscher; B Molzer; H Bernheimer; S Stöckler; I Mutz; F Paltauf
Journal:  Pediatr Res       Date:  1985-09       Impact factor: 3.756

5.  Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

Authors:  R B Schutgens; G J Romeyn; R J Wanders; H van den Bosch; G Schrakamp; H S Heymans
Journal:  Biochem Biophys Res Commun       Date:  1984-04-16       Impact factor: 3.575

6.  Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.

Authors:  R J Wanders; M Kos; B Roest; A J Meijer; G Schrakamp; H S Heymans; W H Tegelaers; H van den Bosch; R B Schutgens; J M Tager
Journal:  Biochem Biophys Res Commun       Date:  1984-09-28       Impact factor: 3.575

7.  Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.

Authors:  I Singh; A E Moser; S Goldfischer; H W Moser
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

8.  X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Authors:  C R Kennedy; J T Allen; A H Fensom; S J Steinberg; R Wilson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-06       Impact factor: 10.154
  8 in total
  1 in total

1.  Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.

Authors:  S J Steinberg; A H Fensom
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318
  1 in total

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