title: A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics.
mesh_terms: D000328:Adult; D001763:Blepharoptosis; D003320:Corneal Ulcer; D005260:Female; D006331:Heart Diseases; D006801:Humans; D008661:Metabolism, Inborn Errors; D008059:Mucopolysaccharidosis I; D009135:Muscular Diseases; D009422:Nervous System Diseases; D009886:Ophthalmoplegia; D012035:Refsum Disease; D012174:Retinitis Pigmentosa; D013285:Strabismus