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...

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Detalles Bibliográficos
Autores principales: Baker, Joshua, Hitchins, Lauren, Vucko, Erika, Havens, Kirsten, Becker, Karen, Arduini, Katherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
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

Internet

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

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