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Mimicking the Function of Signaling Proteins: Toward Artificial Signal Transduction Therapy
Published on: September 29, 2016
Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia
Thomas Cluzeau1, Abderrahim Oussalah2,3,4, Maël Silva Rodriguez2,3,4
1CHU Nice-Hôpital de l'Archet 1 Nice France.
None:
A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post-parenteral B12. This case highlights the need for metabolic/genetic workup in atypical cytopenias.
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