Goldenhar syndrome and hereditary typrosinemia type 1
Neurosciences. 2003; 8 (1): 55-59
in English
| IMEMR
| ID: emr-63975
ABSTRACT
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Tyrosinemias
/
Amino Acid Metabolism, Inborn Errors
/
Goldenhar Syndrome
/
4-Hydroxyphenylpyruvate Dioxygenase
Type of study:
Case report
Limits:
Female
/
Humans
Language:
English
Journal:
Neurosciences
Year:
2003
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