Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant

Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in patien...

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Bibliographic Details
Main Authors: Yoona Rhee, Todd Heaton, Catherine Keegan, Ayesha Ahmad
Format: Article
Language:English
Published: MDPI AG 2013-01-01
Series:Clinics and Practice
Subjects:
citrullinemia
hyperammonemia
pyloric stenosis
vomiting
Online Access:https://www.clinicsandpractice.org/index.php/cp/article/view/559

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