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- W2489234134 abstract "Oculocutaneous tyrosinemia was first described in 1967 by NG. Campbell and colleagues in a report of a patient with corneal ulcers, erythematous papular lesions on the palms and soles, and severe impairment of mental development. Dendritic keratitis, causing lacrimation, photophobia, inflammation, ulcers, and scars; keratoses of the palms and soles; hypertyrosinemia; defective activity of hepatic cytoplasmic tyrosine aminotransferase. The most important manifestations of oculocutaneous tyrosinemia are those involving the eye, because they can lead to scarring of the cornea and permanent visual impairment. Transmission of oculocutaneous tyrosinemia is autosomal recessive. An animal model for oculocutaneous tyrosinemia is available in mink, where it produces a disorder known as “pseudodistemper” in which there are exudative lesions of the eyes and volar skin. The treatment of oculocutaneous tyrosinemia consists of the institution of a diet low in tyrosine and phenylalanine. Experience with maternal tyrosinemia indicates that dietary control during pregnancy would be prudent." @default.
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- W2489234134 date "2005-08-26" @default.
- W2489234134 modified "2023-10-05" @default.
- W2489234134 title "Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency" @default.
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- W2489234134 doi "https://doi.org/10.1201/b13565-31" @default.
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