REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE.
D001259:Ataxia; D001769:Blood; D002386:Cataract; D002555:Cerebrospinal Fluid; D002648:Child; D004796:Clinical Enzyme Tests; D003638:Deafness; D005227:Fatty Acids; D005826:Genetics, Medical; D006801:Humans; D008607:Intellectual Disability; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors; D009133:Muscular Atrophy; D019308:Palmitic Acid; D012035:Refsum Disease; D013064:Speech Disorders; D014786:Vision Disorders
D005227:Fatty Acids; D019308:Palmitic Acid
ATAXIA; BLOOD; CATARACT; CEREBROSPINAL FLUID; CHILD; DEAFNESS; ENZYME TESTS; FATTY ACIDS; GENETICS, HUMAN; HEMERALOPIA; LIPID METABOLISM, INBORN ERRORS; MENTAL RETARDATION; MUSCULAR ATROPHY; REFSUM'S SYNDROME; SPEECH DISORDERS