A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency
Background: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. Case presentation: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenome...
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| Format: | Article |
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2023
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| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/85319 |
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| Institution: | Mahidol University |