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Article

Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.

Pediatric blood & cancer - 1 Jul 2016

LeBlanc Marissa A, Bettle Amanda, Berman Jason N, Price Victoria E, Pambrun Chantale, Yu Zhijie, Tiller Marilyn, McMaster Christopher R, Fernandez Conrad V

Abstract excerpt

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...

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PMID: 27038157
DOI: 10.1002/pbc.25981

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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