Literature DB >> 2420599

Impaired plasmalogen metabolism in infantile Refsum's disease.

B T Poll-Thé, H Ogier, J M Saudubray, R B Schutgens, R J Wanders, H van den Bosch, G Schrakamp.   

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Year:  1986        PMID： 2420599     DOI： 10.1007/bf00441753

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  8 in total

1.  Prenatal detection of Zellweger syndrome.

Authors:  R B Schutgens; H S Heymans; R J Wanders; H vd Bosch; G Schrakamp
Journal:  Lancet       Date:  1984-12-08       Impact factor: 79.321

2.  Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome.

Authors:  O Stokke; S Skrede; J Ek; I Björkhem
Journal:  Scand J Clin Lab Invest       Date:  1984-09       Impact factor: 1.713

3.  The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

Authors:  A E Moser; I Singh; F R Brown; G I Solish; R I Kelley; P J Benke; H W Moser
Journal:  N Engl J Med       Date:  1984-05-03       Impact factor: 91.245

4.  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

5.  Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.

Authors:  J M Scotto; M Hadchouel; M Odievre; M H Laudat; J M Saudubray; O Dulac; I Beucler; P Beaune
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

6.  The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts.

Authors:  G Schrakamp; R B Schutgens; R J Wanders; H S Heymans; J M Tager; H Van den Bosch
Journal:  Biochim Biophys Acta       Date:  1985-01-09

7.  Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Authors:  A Poulos; A C Pollard; J D Mitchell; G Wise; G Mortimer
Journal:  Arch Dis Child       Date:  1984-03       Impact factor: 3.791

8.  Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

Authors:  A Poulos; P Sharp; M Whiting
Journal:  Clin Genet       Date:  1984-12       Impact factor: 4.438
  8 in total
  3 in total

1.  Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

Authors:  B T Poll-The; J M Saudubray; H A Ogier; M Odièvre; J M Scotto; L Monnens; L C Govaerts; F Roels; A Cornelis; R B Schutgens
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

2.  Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.

Authors:  E F Robertson; A Poulos; P Sharp; J Manson; G Wise; A Jaunzems; R Carter
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

3.  Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line.

Authors:  E Bachir Bioukar; F Straehli; K H Ng; M O Rolland; T Hashimoto; J P Carreau; J Deschatrette
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  3 in total

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