Partial N‐acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management

N‐acetyl glutamate synthase (NAGS) deficiency (OMIM #: 237310) is a rare urea cycle disorder that usually presents early in life with hyperammonemia. NAGS catalyzes the synthesis of N‐acetyl glutamate (NAG) which functions as an activator of the carbamoyl phosphate synthetase‐1 mediated conversion o...

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Detalles Bibliográficos
Autores principales: Abou Haidar, Lea, Pachnis, Panayotis, Gotway, Garrett K., Ni, Min, DeBerardinis, Ralph J., McNutt, Markey C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623101/
https://www.ncbi.nlm.nih.gov/pubmed/37927481
http://dx.doi.org/10.1002/jmd2.12388

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