Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC gene cause an impairment in ureagenesis, resulting in hyperammonemia, which is a direct cause of brain damage and de...

Descripción completa

Detalles Bibliográficos
Autores principales: Ibrahim, Majitha Seyed, Gold, Jessica I., Woodall, Alison, Yilmaz, Berna Seker, Gissen, Paul, Stepien, Karolina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453542/
https://www.ncbi.nlm.nih.gov/pubmed/37628367
http://dx.doi.org/10.3390/children10081368

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453542/
https://www.ncbi.nlm.nih.gov/pubmed/37628367
http://dx.doi.org/10.3390/children10081368

Ejemplares similares