Clinical and Experimental Pediatrics

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Original Article

Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis

Meng-Ju Melody Tsai, Jung-Chi Chang, Heng-Yu Lu, Susan Shur-Fen Gau, Yin-Hsiu Chien, Wuh-Liang Hwu, Yen-Hsuan Ni, Huey-Ling Chen, Ni-Chung Lee

Background: Citrin deficiency is a rare metabolic disorder prevalent in East and Southeast Asia that affects liver or neurological function throughout various life stages. While early diagnosis and dietary management can improve prognosis for infant onset disease, data on long-term neurocognitive outcomes is scarce.
Purpose: This study aimed to clarify whether transient metabolic disturbances during early childhood have a lasting effect...

DOI: https://doi.org/10.3345/cep.2024.01102 [Accepted]

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Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)