Pelet B, Antener I, Faggioni R, Spahr A, Gautier E
Helv Paediatr Acta. 1979 May;34(2):177-83.
A boy of 3 2/12 years of age with Richner-Hanhart syndrome (plantar and palmar keratosis and chronic keratitis) was found to have hypertyrosinemia and to excrete the hydroxyacids derived from tyrosine. A diet poor in phenylalanine and tyrosine cured the skin and corneal lesions. Clinical and biochemical observations are reported.
一名3又2/12岁患有Richner-Hanhart综合征(掌跖角化病和慢性角膜炎)的男孩被发现患有高酪氨酸血症,并排泄源自酪氨酸的羟酸。低苯丙氨酸和酪氨酸饮食治愈了皮肤和角膜病变。报告了临床和生化观察结果。