Associated Papers
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.
Lacabanne D et al.
Journal of Inherited Metabolic Disease, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.
Tavoulari S et al.
Molecular Metabolism, 2024
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.
Kido J et al.
Journal of Inherited Metabolic Disease, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.
Nguyen MT et al.
Journal of Human Genetics, 2023
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
37047726 (PubMed )
Supplement: ijms-24-06754-s001.zip › ijms-2241907-supplementary › Supplementary_Tables_Figures › Supplementary_Table_S10.xlsx › Citrin_Patients
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
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Pinto A et al.
Nutrients, 2020
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Song YZ et al.
Plos One, 2013
The role of amino acid transporters in inherited and acquired diseases.
Bröer S et al.
The Biochemical Journal, 2011
The characteristics of food intake in patients with type II citrullinemia.
Nakamura M et al.
Journal of Nutritional Science and Vitaminology, 2011
An adult with type 2 citrullinemia presenting in Europe.
Fiermonte G et al.
The New England Journal of Medicine, 2008
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.
Tabata A et al.
Journal of Human Genetics, 2008
Diseases caused by defects of mitochondrial carriers: a review.
Palmieri F
Biochimica Et Biophysica Acta, 0
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