Human adenylate kinase deficiency associated with hemolytic anemia
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چکیده
منابع مشابه
Two Cases of Chronic Hemolytic Anemia Associated with Spherocytosis
Two cases of hemolytic anemia with spherocytosis were investigated. lnspite of chronic hemolysis tl::crc was no radiological changes in flat bones. Management and entity of spherocytosis is discussed m detail in this paper.
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A new case of phosphoglycerate kinase (PGK) deficiency is described. The propositus displayed episodes of rhabdomyolysis crises and acute renal failure but did not exhibit any sign of hemolysis. A severe deficiency in phosphoglycerate kinase was revealed in muscle and was also found in erythrocytes, white cells and platelets. A partial defect in the same enzyme was present in the mother's and t...
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I N RECENT YEARS, specffic inborn erythrocyte enzyme deficiencies have l)een implicated in the etiology of certain hereditary hemolytic anemias not characterized by spherocytosis. This report defines still another instance in which hereditary hemolytic anemia has been found to be associated with a deficiency in a specific glycolytic enzyme. The propositus has had a hemolytic syndrome present si...
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Red blood cell (RBC) protein 4.2 deficiency is often associated with a moderate nonimmune hemolytic anemia, splenomegaly, and osmotically fragile RBCs resembling, but not identical to, hereditary spherocytosis (HS). In the Japanese type of protein 4.2 deficiency (protein 4.2NiPPO"), the anemia is associated with a point mutation in the protein 4.2 cDNA. In this report, we describe a patient wit...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1989
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(18)81779-3