[The diagnosis of peroxisomal disorders in Spain during the period 1987-1997].

Abstract excerpt

INTRODUCTION: Peroxisomal disorders are divided into two groups: a) Those with alterations in multiple peroxisomal functions, and b) With alterations in only one peroxisomal function. DEVELOPMENT: During the period 1987-1997, using very long chain fatty acids, plasmalogens and phytanic acid as diagnostic parameters, we diagnosed 116 cases of peroxisomal disorders in Spain. The most frequent (76%) was found to be...

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