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A child with dendritiform eye lesions and developmental delay

PURPOSE: Tyrosinemia Type II (Richner-Hanhart syndrome) is a rare autosomal recessive disease that occurs due to deficiency in the enzyme tyrosine aminotransferase and can result in an ulcerated keratitis. We present a case of a young patient with oculocutaneous tyrosinemia despite a negative newbor...

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Detalles Bibliográficos
Autores principales: Gliagias, Vasiliki, Denisova, Ksenia, Kang, Joann J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471959/
https://www.ncbi.nlm.nih.gov/pubmed/36118278
http://dx.doi.org/10.1016/j.ajoc.2022.101701