Results 101 to 110 of about 638 (159)

Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency. [PDF]

Blood Adv
van Beers EJ, Al-Samkari H, Grace RF, Barcellini W, Glenthøj A, DiBacco M, Wind-Rotolo M, Xu R, Beynon V, Patel P, Porter JB, Kuo KHM.   +11 more
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Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis. [PDF]

Nat Commun
Huang S, Reed C, Ilsley M, Magor G, Tallack M, Landsberg M, Mitchell H, Gillinder K, Perkins A.   +8 more
europepmc   +1 more source

Enzymatic anomaly of erythrocytes in congenital nonspherocytic hemolytic anemia. 2.

The Tohoku journal of experimental medicine, 1998
openaire   +1 more source

Recent developments in the use of pyruvate kinase activators as a new approach for treating sickle cell disease.

Blood
Parekh DS, Eaton WA, Thein SL.
europepmc   +1 more source

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Erythrocyte Pyruvate Kinase Deficiency Resulting in Congenital Nonspherocytic Hemolytic Anemia

New England Journal of Medicine, 1963
HEREDITARY spherocytosis with its associated congenital hemolytic anemia is generally easily recognized and satisfactorily treated with splenectomy. A rarer group of congenital hemolytic anemias, however, is sometimes confused with hereditary spherocytosis because of the occasional presence of small numbers of spherocytes in association with varying ...
F A, OSKI, L K, DIAMOND
exaly   +7 more sources

Hemochromatosis and Congenital Nonspherocytic Hemolytic Anemia in Siblings

JAMA: The Journal of the American Medical Association, 1963
The unusual occurrence of both congenital nonspherocytic hemolytic anemia and hemochromatosis in a brother and sister is reported. The strikingly similar clinicopathologic abnormalities, including extraordinarily severe cardiac lesions in these relatively young siblings, is discussed.
G, REEVES, P G, RIGBY, H, ROSEN, G H, FRIEDELL, C P, EMERSON   +4 more
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ENZYME DEFICIENCY IN ERYTHROCYTES IN CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA

Pediatrics, 1959
Two cases of congenital nonspherocytic hemolytic anemia are reported. The patients were brothers and both showed severe metabolic defects in the erythrocytes, consisting of a low content of reduced glutathione, markedly abnormal reduced glutathione stability test, and a very low activity of glucose-6-phosphate dehydrogenase.
N T, SHAHIDI, L K, DIAMOND
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Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia

The Journal of Pediatrics, 1959
Summary The clinical course, hematologic data, and red cell glutathione and glucose-6-phosphate dehydrogenase studies are reported for 6 patients who had a congenital nonspherocytic hemolytic anemia. On the basis of these findings the patients could be divided into three groups. Group 1 consists of three Caucasian boys belonging to two families. The
W H, ZINKHAM, R E, LENHARD
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Congenital Nonspherocytic Hemolytic Anemias

Postgraduate Medicine, 1967
A specific diagnosis must be established in congenital nonspherocytic hemolytic anemia, for guidance in therapy and family counseling. Diagnostic methods have recently progressed rapidly and include determination of deficiencies in the activity of certain enzymes. Further definitions of enzymatic deficiencies are anticipated.
openaire   +4 more sources