Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency.
Journal: The Journal of biological chemistry
Published: May 18, 2024
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Journal: Human mutation
Published: January 26, 2021
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
Journal: The Journal of clinical investigation
Published: December 06, 2019
Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.
Journal: Haematologica
Published: July 15, 2018
Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia.
Journal: Clinical case reports
Published: January 23, 2018
Cost-effectiveness of routine imaging of suspected appendicitis.
Journal: Annals of the Royal College of Surgeons of England
Published: October 20, 2017
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Journal: Haematologica
Published: October 17, 2017
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Journal: Blood
Published: September 14, 2015
Sideroblastic anemia: diagnosis and management.
Journal: Hematology/oncology clinics of North America
Published: July 28, 2014
Last Updated: 09/26/2026