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

R. J. Soorani-Lunsing, F. J. van Spronsen, I. Stolte-Dijkstra, R. J. Wanders, S. Ferdinandusse, H. R. Waterham, B. T. Poll-The, J. P. Rake

Research output: Contribution to journalArticleAcademicpeer-review

15 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
JournalJournal of Inherited Metabolic Disease
Volume28
Issue number6
DOIs
Publication statusPublished - 2005

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