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Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia

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Mammen Puliyel, M.B., B.S., Patrick G. Gallagher, MD, Vasilios Berdoukas, MBBS, Bertil Glader, MD, PhD, Thomas Coates, MD
Journal: Blood
Blood (2013) 122 (21): 947.
https://doi.org/10.1182/blood.V122.21.947.947
Published: 2013