Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision‐making in rare disease

Urea cycle disorders (UCD) are rare inherited metabolic disorders caused by deficiencies of enzymes and transporters required to convert neurotoxic ammonia into urea. These deficiencies cause elevated blood ammonia, which if untreated may result in death, but even with optimal medical management, of...

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Detalles Bibliográficos
Autores principales: Gerstein, Maya T., Markus, Anne R., Gianattasio, Kan Z., Le Mons, Cynthia, Bartos, Janice, Stevens, David M., Mew, Nicholas Ah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318329/
https://www.ncbi.nlm.nih.gov/pubmed/31883128
http://dx.doi.org/10.1002/jimd.12209

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