Results 41 to 50 of about 6,166 (240)
Differential diagnosis of iron deficiency [PDF]
, 2010 Iron deficiency is considered to be the commonest hematological pathology in humans. Thus, the essential steps in an adequate approach of iron deficiency include: the proper identification of its causes and the differentiation between iron deficiency and
Figueiredo, Maria Stella, Vicari, Perla
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Ring sideroblasts and sideroblastic anemias
Haematologica, 2011 The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ring sideroblasts in the bone marrow ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire +3 more sources
Iron–sulfur clusters: from metals through mitochondria biogenesis to disease [PDF]
, 2018 Iron–sulfur clusters are ubiquitous inorganic co-factors that contribute to a wide range of cell pathways including the maintenance of DNA integrity, regulation of gene expression and protein translation, energy production, and antiviral response ...
Cardenas-Rodriguez, Mauricio +2 more
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Clinical studies on iron metabolism of erythroblasts in preleukemic stage [PDF]
, 1974 The appearance of sideroblasts in hypoplastic anemia (HAl and acute myelocytic leukemia (AML), together with their sideroblastograms, was studied. Hematological studies on cases with type III sideroblast dominance by sideroblastograms produced the ...
Kimura, Ikuro +2 more
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Diagnostics, 2022 Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification.
Sandrine Girard +4 more
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TRNT1 deficiency: clinical, biochemical and molecular genetic features [PDF]
, 2016 BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).
Chong, WK +14 more
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Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors [PDF]
, 2018 OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in ...
et al +3 more
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Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]
, 2017 Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania +14 more
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Haematologica, 2011 Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser +16 more
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A rare case of isoniazid induced sideroblastic anemia [PDF]
, 2023 Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Chawla, Kunal +3 more
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