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Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency()
We report on a family with ornithine transcarbamylase (OTC) deficiency, an X-linked urea cycle disorder, with variable disease severity and tailored management strategies based on each family member's biochemical profile and clinical presentation. Our primary patient is a female monozygotic twi...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817479/ https://www.ncbi.nlm.nih.gov/pubmed/36620388 http://dx.doi.org/10.1016/j.ymgmr.2022.100906 |