期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 40, 期 3, 页码 461-462出版社
SPRINGER
DOI: 10.1007/s10545-016-9996-z
关键词
-
资金
- German Research Foundation (DFG)
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis.
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