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    • Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response 

      Al Essa, M.A.; Rashed, M.S.; Ozand, P.T. (‎1999)‎
      We retrospectively reviewed clinical and biochemical data of four patients diagnosed with tyrosinaemia type II. Diagnosis was established by high plasma tyrosine and normal plasma phenylalanine levels using plasma high-pressure liquid chromatography and tandem mass spectrometry. All patients were mildly mentally retarded and had painful non-pruritic and hyperkeratotic plaques on the soles and palms. There were no ophthalmic symptoms. The patients dramatically responded clinically and biochemically to a diet restricted in tyrosine and phenylalanine