Associated Papers
Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant.
Selamioğlu A et al.
The Turkish Journal of Pediatrics, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.
Sachs N et al.
Gene, 2023
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S et al.
Trends in Endocrinology and Metabolism: Tem, 2022
35725541 (PubMed )
Supplement: EMS164660-supplement-Supplementary_Material.docx
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