Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes()

Urea cycle disorders (UCDs) are a group of rare inherited metabolic conditions caused by enzyme deficiency within the hepatic ammonia detoxification pathway. Ornithine transcarbamylase (OTC) deficiency, the most frequently occurring UCD, is an X-linked condition known to yield a vastly heterogeneous...

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Detalles Bibliográficos
Autor principal: Feigenbaum, Annette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Overview
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817477/
https://www.ncbi.nlm.nih.gov/pubmed/36620389
http://dx.doi.org/10.1016/j.ymgmr.2022.100941

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817477/
https://www.ncbi.nlm.nih.gov/pubmed/36620389
http://dx.doi.org/10.1016/j.ymgmr.2022.100941

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