Van gen naar ziekte; X-gebonden adrenoleukodystrofie

M. Engelen, S. Kemp, B. M. van Geel

Research output: Contribution to journalArticleProfessional

1 Citation (Scopus)

Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, characterized by impaired peroxisomal beta-oxidation, subsequent accumulation of very long-chain fatty acids (> 22 carbon atoms), and mutations in the ABCD1 gene. Clinical manifestations, diagnostic procedures and treatment options are discussed
Original languageDutch
Pages (from-to)804-808
JournalNederlands Tijdschrift voor Geneeskunde
Volume152
Issue number14
Publication statusPublished - 2008

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