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

doi:10.1016/0002-9343(67)90015-0

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 journal › Article › peer-review

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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 language	English (US)
Pages (from-to)	163-168
Number of pages	6
Journal	The American journal of medicine
Volume	42
Issue number	2
DOIs	https://doi.org/10.1016/0002-9343(67)90015-0
State	Published - Feb 1967

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General Medicine

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A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics. / Shy, G. M.; Silberberg, D. H.; Appel, S. H. et al.
In: The American journal of medicine, Vol. 42, No. 2, 02.1967, p. 163-168.

Research output: Contribution to journal › Article › peer-review

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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.",

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AU - Godfrey, E. H.

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AB - 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.

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

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