Associated Papers
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
Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong.
Chong SC et al.
Molecular Genetics and Metabolism Reports, 2018
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