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

G. M. Shy, D. H. Silberberg, S. H. Appel, M. M. Mishkin, E. H. Godfrey

Research output: Contribution to journalArticle

88 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)163-168
Number of pages6
JournalThe American journal of medicine
Volume42
Issue number2
DOIs
StatePublished - Feb 1967
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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