Thiamine responsive megaloblastic anemia: the puzzling phenotype.


BACKGROUND Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been described in few cases. The SLC19A2 gene on chromosome 1q 23.3 is implicated in all cases with TRMA. Our aim is to discuss the clinical manifestations of… (More)
DOI: 10.1002/pbc.24849


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