RT Journal Article
SR Electronic
T1 Goldenhar syndrome and hereditary tyrosinemia type 1
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 55
OP 59
VO 8
IS 1
A1 Moeen A. Al-Sayed
A1 Ali M. Al-Asmari
A1 Mohammed S. Rashed
YR 2003
UL http://nsj.org.sa/content/8/1/55.abstract
AB 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.