A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics Academic Article uri icon

Overview

MeSH Major

  • Heart Diseases
  • Mucopolysaccharidosis I
  • Muscular Diseases
  • Nervous System Diseases
  • Refsum Disease

abstract

  • 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.

publication date

  • February 1967

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed ID

  • 4163596

Additional Document Info

start page

  • 163

end page

  • 8

volume

  • 42

number

  • 2