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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2021
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| 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 |