A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics
Nervous System Diseases
A patient is described in whom the findings could be compatible with a forme fruste of either Refsum's disease or Hurler's disease but there was no indication of abnormal accumulation of phytanic acid or of acid mucopolysaccharides. The biochemical defect and proper diagnostic categorization must await further investigation of what appears to be an inborn error of metabolism. © 1967.
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