Literature DB >> 2465643

[Refsum's disease. Hereditary atactic polyneuritis].

N J Brandt, E Christensen, T Rosenberg.   

Abstract

As it is possible to prevent progression of the disease by early treatment all patients with otherwise unexplained retinitis pigmentosa should be screened for phytanic acid accumulation in the plasma.

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Year:  1989        PMID： 2465643

Source DB:  PubMed          Journal:  Ugeskr Laeger        ISSN： 0041-5782


  3 in total

1.  A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.

Authors:  E Christensen; J Van Eldere; N J Brandt; R B Schutgens; R J Wanders; H J Eyssen
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.

Authors:  E Christensen; S A Pedersen; H Leth; C Jakobs; R B Schutgens; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

3.  The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.

Authors:  E Christensen; N J Brandt; T Rosenberg; K Bömers; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  3 in total

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