Results 81 to 90 of about 8,373,614 (131)
, 2011 A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA ...
Peter Hickey (3484085) +10 more
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Luspatercept Enhances Hemoglobin Levels in a Chinese Boy With Congenital Sideroblastic Anemia: A Case Report [PDF]
BACKGROUND: Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia ...
Zhou, Kang +12 more
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A Case Report of Inflammatory Myopathy and Sideroblastic Anemia
, 2007 Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
M Mortazavi Zadeh, R Fallah, F Binesh
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X-Linked Sideroblastic Anemia and Ataxia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
, 1993 UnlabelledNOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.Clinical characteristicsX-linked sideroblastic anemia and ataxia (XLSA/A) is characterized by moderate ...
Vermeersch, Pieter +2 more
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, 2006 Chapter on pathogenesis and clinical features of sideroblastic anemias. Males with hereditary X-linked sideroblastic anemia may present in the first two decades of life with symptoms of anemia, or later with either anemia and/or symptoms and signs of ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
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The dimorphic blood picture in sideroblastic anemia suggests the coexistence of at least two types of erythrocyte, the populations with the smaller RBCs being responsible for the crucial abnormality, namely the impairment of iron incorporation into ...
Riedler, Georg F., Straub, P. Werner
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Sickle Hemoglobin and Sideroblastic Anemia
, 2002 dimorphic smear in patient with Hb SS and acute onset of sideroblastic ...
Lawrence, Christine
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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemiaX-linked sideroblastic anemia (XLSA) is associated with mutations in the erythroid-specific δ-aminolevulinic acid synthase (ALAS2) gene. Treatment for XLSA is mainly supportive, except in pyridoxine-responsive patients. Female XLSA often represents a late onset of severe anemia, mostly due to the acquired skewing of X-chromosome inactivation.
openaire +3 more sources
Molecular Defects of Erythroid 5-Aminolevulinate Synthase in X-Linked Sideroblastic Anemia
Journal of Bioenergetics and Biomembranes, 1995 The erythroid-specific isozyme of 5-aminolevulinate synthase (ALAS2), the first and rate-limiting enzyme of heme biosynthesis, is expressed concomitantly with the differentiation and maturation of the erythroid cell in order to accommodate generation of the large amounts of heme required for hemoglobin production.
David F Bishop +2 more
exaly +5 more sources
European Journal of Paediatric Neurology, 2012 X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis ...
Soumeya Bekri +2 more
exaly +5 more sources