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American Journal of Medical Genetics. Part A, 2021
Sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD; MIM #616084) is an autosomal recessive disorder of mitochondrial and cytosolic tRNA processing caused by pathogenic, biallelic variants in TRNT1.
J. Odom +10 more
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Sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD; MIM #616084) is an autosomal recessive disorder of mitochondrial and cytosolic tRNA processing caused by pathogenic, biallelic variants in TRNT1.
J. Odom +10 more
semanticscholar +1 more source
A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia
Pediatric Blood & Cancer, 2021To the Editor: X-linkedsideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA). Approximately 70 different mutations have been described.
Jamie Oakley +7 more
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Busulfan‐induced sideroblastic anemia
American Journal of Hematology, 1988AbstractPatients in the stable phase of chronic myelogenous leukemia (CML) are usually treated with busulfan. The bone marrow of patients with CML may be exquisitely sensitive to busulfan, and occasionally such patients develop pancytopenia, secondary to hypoplasia or aplasia of the bone marrow, which is presumed to be due to busulfan‐induced marrow ...
L A, Fernandez, E, Zayed
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Hematology Meeting Reports, 2009
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ringed sideroblasts in the bone marrow.1 These latter are immature red cells with iron-loaded mitochondria visualized by Prussian blue staining as a perinuclear ring of blue granules. The most common of
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The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ringed sideroblasts in the bone marrow.1 These latter are immature red cells with iron-loaded mitochondria visualized by Prussian blue staining as a perinuclear ring of blue granules. The most common of
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JAMA: The Journal of the American Medical Association, 1987
P I, Liu, J Y, Lim
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P I, Liu, J Y, Lim
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Orvosi hetilap, 1992
The sideroblastic anaemias form a group of disorders of varying aetiology. They are being recognized with increasing frequency, especially as routine staining of bone marrow films for iron is now standard practice in most foreign laboratories. The sideroblastic anaemias have as a common feature the presence of large numbers of pathologic (ringed ...
I, Bernát Sándor +3 more
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The sideroblastic anaemias form a group of disorders of varying aetiology. They are being recognized with increasing frequency, especially as routine staining of bone marrow films for iron is now standard practice in most foreign laboratories. The sideroblastic anaemias have as a common feature the presence of large numbers of pathologic (ringed ...
I, Bernát Sándor +3 more
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Therapeutische Umschau. Revue therapeutique, 2006
Sideroblastic anemias are a heterogenous group of disorders characterized by the presence of sideroblasts in the bone marrow aspirate. Current classification schemes distinguish between diseases of the heme synthesis pathway and diseases of other mitochondrial pathways which can either be of primary origin (defects in mitochondrial DNA) or of secondary
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Sideroblastic anemias are a heterogenous group of disorders characterized by the presence of sideroblasts in the bone marrow aspirate. Current classification schemes distinguish between diseases of the heme synthesis pathway and diseases of other mitochondrial pathways which can either be of primary origin (defects in mitochondrial DNA) or of secondary
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Hereditary Sideroblastic Anemia
Hospital Practice, 1991V F, Fairbanks +2 more
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Hematology/Oncology Clinics of North America, 2014
Sylvia S. Bottomley, Mark D. Fleming
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Sylvia S. Bottomley, Mark D. Fleming
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Two new mutations in the GLRX5 gene cause sideroblastic anemia.
Blood Cells, Molecules & Diseases, 2023Andrés Felipe Melo Arias +6 more
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