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sedoheptulose/anisocoria

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Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

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Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for
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