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Molecular Genetics and Metabolism|August 8, 2025
Deep phenotyping of patients with citrin deficiency in Singapore- single centre experienceMildrid Yeo, Jeannette Lay Kuan Goh, Ai Ling Koh, et al.Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.Archives of Disease in Childhood|August 22, 2020
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical ManagementNeha S Bhatia, Jiin Ying Lim, Carine Bonnard, et al.Pageof 2