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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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University of California Irvine, Department of Emergency Medicine publishing Western Journal of Emergency Medicine
2023
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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 |