Associated Papers
SLC25A38 is required for mitochondrial pyridoxal 5'-phosphate (PLP) accumulation.
Pena IA et al.
Nature Communications, 2025
Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.
Dongerdiye R et al.
Annals of Hematology, 2024
Luspatercept for the treatment of congenital sideroblastic anemia: Two case reports.
Shao Y et al.
Current Research in Translational Medicine, 2024
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM et al.
Human Mutation, 2021
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA et al.
Blood Cells, Molecules & Diseases, 2017
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.
An W et al.
Journal of Hematology & Oncology, 2015
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C et al.
Haematologica, 2011
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