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- W2316781978 abstract "Congenital sideroblastic anemia (CSA) is a hematological disorder characterized by the presence of ringed sideroblasts in bone marrow erythroid precursors. Mutations in the erythroid‐specific glycine mitochondrial transporter gene SLC25A38 have been found in a subset of patients with transfusion‐dependent congenital CSA. Further studies in a zebrafish model identified a promising ameliorative strategy with combined supplementation with glycine and folate. We tested this combination in three individuals with SLC25A38 CSA, with a primary objective to decrease red blood cell transfusion requirements. No significant impact was observed on transfusion requirements or any hematologic parameters." @default.
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- W2316781978 date "2016-04-01" @default.
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- W2316781978 title "Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia" @default.
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- W2316781978 doi "https://doi.org/10.1002/pbc.25981" @default.
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