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Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report

INTRODUCTION: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination. Urea cycle disorders are typically diagnosed on neonatal screening but rarely can lie dormant until a metabolic stressor causes initial onset...

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Detalles Bibliográficos
Autores principales: Borsuk, Michael, Saab, Mathew, Tobin, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: University of California Irvine, Department of Emergency Medicine publishing Western Journal of Emergency Medicine 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983343/
https://www.ncbi.nlm.nih.gov/pubmed/36859323
http://dx.doi.org/10.5811/cpcem.2022.10.57277