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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BioMed Central Ltd
2022
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| Subjects: | |
| Online Access: | View Fulltext in Publisher |