Goldenhar syndrome and hereditary tyrosinemia type 1.
نویسندگان
چکیده
We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cyclohexanedione in the treatment of HTT1.
منابع مشابه
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عنوان ژورنال:
- Saudi medical journal
دوره 23 12 شماره
صفحات -
تاریخ انتشار 2002