Results 151 to 160 of about 288,483 (243)

A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology

open access: yesPractical Laboratory Medicine
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]

open access: green, 2014
Lindsay C. Burrage   +13 more
openalex   +1 more source

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 [PDF]

open access: bronze, 2014
Junya Nakajima   +8 more
openalex   +1 more source

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2 [PDF]

open access: gold, 2016
Manuel Méndez   +5 more
openalex   +1 more source

Two new cases with Pearson syndrome and review of Hacettepe experience

open access: yesThe Turkish Journal of Pediatrics, 2008
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

open access: yesRussian journal of hematology and transfusiology
V. Dvirnyk   +5 more
semanticscholar   +1 more source

Altered Transcription By GATA1 Impairs Autophagy and Prevents Ferroptosis in X-Linked Sideroblastic Anemia

open access: bronze, 2022
Koya Ono   +14 more
openalex   +1 more source

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia

open access: bronze, 2003
Mario Cazzola   +9 more
openalex   +1 more source

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