You may find all the publications that have been supported by the Foundation below. Please click on the respective titles to read more.
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| Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening. Kido et al. JIMD, 2023. |
| Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver. González-Moreno et al. Mol Genet Metab Rep, 2023. |
| Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency. Yau et al. Hum Mol Genet, 2023. |
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| Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency. Tavoulari et al. Trends Endocrinol Metab, 2022. |
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| Food Preferences of Patients with Citrin Deficiency. Okamoto et al. Nutrients, 2021. |
| Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia. Okano et al. Mol Genet Metab, 2021. |
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| AGC2 (Citrin) Deficiency – From Recognition of the Disease till Construction of Therapeutic Procedures. Saheki et al. Biomolecules, 2020. |
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| Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2. Okano et al. Mol Genet Metab, 2019. |
| Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model. Saheki et al. Sci Rep, 2019. |
