Cargando…
Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation
Citrullinemia refers to a family of autosomal recessive disorders involving the urea cycle. Three forms exist, which have different implications. Type I citrullinemia exists in both mild and severe forms. It arises due to mutations with argininosuccinate synthase leading to accumulation of ammonia a...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8212435/ https://www.ncbi.nlm.nih.gov/pubmed/34159013 http://dx.doi.org/10.7759/cureus.15109 |