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REFSUM'S SYNDROME WITH NORMAL PHYTATE METABOLISM
Author(s) -
Ron M. A.,
Pearce John
Publication year - 1971
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1971.tb07516.x
Subject(s) - phytanic acid , inborn error of metabolism , endocrinology , medicine , metabolism , peroxisome , receptor
A case of “Refsum's syndrome” is described, in which phytanic acid was not detected in serum, nerve and muscle. The existence of cases with identical phenotypic manifestations and different underlying metabolic error is postulated.