Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall

RJ Soorani-Lunsing*, FJ van Spronsen, [No Value] Stolte-Dijkstra, RJ Wanders, S Ferdinandusse, HR Waterham, BT Poll-The, JP Rake

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)

Abstract

We present a relatively mild case of peroxisomal D-bifunctional protein deficiency with inconsistent screening results in plasma for peroxisomal disorders.

Original languageEnglish
Pages (from-to)1172-1174
Number of pages3
JournalJournal of Inherited Metabolic Disease
Volume28
Issue number6
DOIs
Publication statusPublished - Dec-2005

Keywords

  • FIBROBLASTS
  • DISORDER
  • EXPRESSION
  • LIVER

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