Associated Papers
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Kido J et al.
Human Mutation, 2025
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
Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency.
Sun W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J et al.
Journal of Inherited Metabolic Disease, 2022
Identification of Novel Mutations in Chinese Infants With Citrullinemia.
Cheng Z et al.
Frontiers in Genetics, 2022
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