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Updated: Sep 10, 2025

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Informe de caso: Desde el coma hasta la comprensión genética: identificación de una nueva variante patógena en el

Lijing Deng1, Yaping Liu1, Kai Chen2

  • 1Department of Neonatology, Shenzhen Third People's Hospital (The Second Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong, China.

Frontiers in pediatrics
|August 21, 2025
PubMed
Resumen

La citrullinemia tipo I (CTLN1), un trastorno del ciclo de la urea, está relacionada con las nuevas variantes del gen ASS1. Este estudio identifica una nueva variante patógena, ampliando las causas genéticas conocidas de CTLN1.

Palabras clave:
El gen de la arginina succinato sintasa (ASS1)Informe de casoCitrulinemia de tipo I (CTLN1)Análisis del minigénVariante del sitio de empalme

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