Results 111 to 120 of about 3,472 (196)

A novel ALAS2 mutation causes congenital sideroblastic anemia

Mediterranean Journal of Hematology and Infectious Diseases, 2023
Kun Yang
doaj   +1 more source

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child. [PDF]

Saudi J Med Med Sci
Abbas AA, Monagel DA, Althubaiti SJ.
europepmc   +1 more source

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of <i>YARS2</i>. [PDF]

Int J Mol Sci
Villafán-Bernal JR, Rosas-Hernández J, García-Ortiz H, Martínez-Hernández A, Contreras-Cubas C, Guerrero-Contreras I, Lee H, Seo GH, Carnevale A, Barajas-Olmos F, Orozco L.   +10 more
europepmc   +1 more source

Sideroblastic anemia [PDF]

, 2020
openaire   +2 more sources

Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants. [PDF]

Case Rep Hematol
Nakao S, Nakaseko C, Ohwada C, Kirito K, Shibamiya A, Tanaka A, Watanabe R, Shimizu N.   +7 more
europepmc   +1 more source

Congenital sideroblastic anemia in a female [PDF]

American Journal of Hematology, 2018
Sophie, Hanina, Barbara J, Bain, Barnaby, Clark, D Mark, Layton   +3 more
openaire   +2 more sources

Defining the Role of Hem25 in Mitochondrial Function: Implications for Congenital Sideroblastic Anemia

, 2015
Congenital sideroblastic anemia (CSA) is a hematological disease caused by mutations in genes that result in a defect in heme/hemoglobin biosynthesis. Mutations in SLC25A38 cause CSA.
Dufay, Jesica N.
core  

Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease. [PDF]

Kidney Int Rep
Schecter DR, Tinker RJ, O'Connell P, Pang J, SzeKing Lee S, Kars ME, Guvenek A, Preuss M, Itan Y, Morava E, Kozicz T, Hirano M, Naini A, Ganesh J.   +13 more
europepmc   +1 more source

Danazol in Idiopathic Sideroblastic Anemia [PDF]

Acta Haematologica, 2009
A, Avilés, M E, Rubio
openaire   +2 more sources

Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]

, 2008
Stauch, Thomas, Vogeser, Michael, Mueller, Wilhelm   +2 more
core   +1 more source