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Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase (OTC) deficiency is an incredibly rare disease in the subgroup of urea cycle disorders. Although typically seen in the neonate shortly after initiating high protein feeds (human breastmilk or infant formula), patients with partial/heterozygous deficiencies can often be dia...

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Detalles Bibliográficos
Autores principales: Eskander, Peter N, Romani, Sara S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8717935/
https://www.ncbi.nlm.nih.gov/pubmed/34987927
http://dx.doi.org/10.7759/cureus.20046