Results 151 to 160 of about 288,483 (243)
A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology
Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of
Huijun Qin, Yuan He, Zaixiang Xie
doaj
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene [PDF]
Lindsay C. Burrage+13 more
openalex +1 more source
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 [PDF]
Junya Nakajima+8 more
openalex +1 more source
Sideroblastic anemia: functional study of two novel missense mutations in
Manuel Méndez+5 more
openalex +1 more source
Two new cases with Pearson syndrome and review of Hacettepe experience
Pearson syndrome (PS) is a mitochondrial disease and clinical presentation is rather varied. These patients are often subjected to extensive biochemical and clinical work-up for diagnosis.
Rezan Topaloğlu+7 more
doaj
Cytological and cytochemical diagnosis of sideroblastic anemia
V. Dvirnyk+5 more
semanticscholar +1 more source
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia
Mario Cazzola+9 more
openalex +1 more source