Article
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
Human mutation - 1 Aug 2004
Gootjes Jeannette, Schmohl Frank, Mooijer Petra A W, Dekker Conny, Mandel Hanna, Topcu Meral, Huemer Martina, Von Schütz M, Marquardt Thorsten, Smeitink Jan A, Waterham Hans R, Wanders Ronald J A
Abstract excerpt
The peroxisome biogenesis disorders (PBDs), which comprise Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD), represent a spectrum of disease severity, with ZS being the most severe, and IRD the least severe disorder. The PBDs are caused by mutations in one of the at least 12 different PEX genes encoding proteins involved in the biogenesis of peroxisomes. We report the...
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