Article
[Human peroxisome-deficient disorders and pathogenic gene].
Rinsho shinkeigaku = Clinical neurology - 1 Dec 1994
Fujiki Y
Abstract excerpt
Peroxisome is a model organelle to investigate the mechanism of protein translocation and organelle assembly. Human autosomal recessive peroxisomal disorders are of clinical consequence and a model system to study the biogenesis and physiological significance of peroxisomes. In patients with generalized peroxisomal disease such as cerebrohepatorenal Zellweger syndrome where peroxisomes are morphologically absent,...
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