Article
[Clinical and molecular aspects of peroxisome-deficient disorders].
Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993
Suzuki Y, Shimozawa N, Orii T
Abstract excerpt
Peroxisome-deficient disorders including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) are characterized by the absence of peroxisomes associated with secondary multiple enzyme deficiencies and by a defect in the neuronal migration. Collaborative complementation studies revealed the presence of at least 9 genetic groups among these disorders. Clinical phenotypes...
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