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An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis

Patient: Male, 10-month-old Final Diagnosis: Tyrosinemia type 2 Symptoms: Decreased appetite • epiphora • irritability • photophobia Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology OBJECTIVE: Challenging differential diagnosis BACKGROUND: Tyrosinemia Type II (TYRII) is a ra...

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Detalles Bibliográficos
Autores principales: Thibault, Louis-Philippe, Mitchell, Grant A., Parisien, Brigitte, Hamel, Patrick, Blanchard, Ana C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9721097/
https://www.ncbi.nlm.nih.gov/pubmed/36447403
http://dx.doi.org/10.12659/AJCR.937967