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APEX10defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

✍ Scribed by S. J. Steinberg; A. Snowden; N. E. Braverman; L. Chen; P. A. Watkins; P. T. Clayton; K. D. R. Setchell; J. E. Heubi; G. V. Raymond; A. B. Moser; H. W. Moser


Book ID
106374419
Publisher
Springer
Year
2008
Tongue
English
Weight
474 KB
Volume
32
Category
Article
ISSN
0141-8955

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## Communicated by Johannes Zschocke 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. Th