Article
The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.
Pediatric research - 1 Sept 2023
Chen Cheng-Yu, Chang Mei-Hwei, Chen Huey-Ling, Chien Yin-Hsiu, Wu Jia-Feng
Abstract excerpt
BACKGROUND: The prognosis for patients with citrin deficiency is not always benign. This study examined the differences between patients identified early by newborn screening and patients identified later with cholestasis/hepatitis. MATERIALS AND METHODS: This retrospective study included 42 patients with genetically confirmed SLC25A13 mutations who were born between May 1996 and August 2019. Fifteen patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.