Transaldolase deficiency
MONDO:0011624Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
Also known as: TALDO deficiency, transaldolase deficiency, Eyaid syndrome, Taldo deficiency
0 clinical trials for this condition and its sub-types, 0 tagged with Transaldolase deficiency itself.
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