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Molecular aspects of erythroenzymopathies associated with hereditary hemolytic anemia

โœ Scribed by Shiro Miwa; Hisaichi Fujii


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
967 KB
Volume
19
Category
Article
ISSN
0361-8609

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๐Ÿ“œ SIMILAR VOLUMES


Molecular basis of erythroenzymopathies
โœ Miwa, Shiro; Fujii, Hisaichi ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 981 KB

Molecular abnormalltles of erythroenzymopathles associated with hereditary hemolytic anemia have been determined by means of molecular biology. Pyruvate kinase (PK) deficiency is the most common and weii-characterized enzyme deficiency in the giycoiytic pathway,anditcauses heredltaryhemolyticanemia.

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## Communicated by Andreas Gal Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI-Catalonia), is homozyg

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## Introduction. Erythrocyte pyrimidine 5'-nucleotidase (5"ribonucleotide phosphohydrolase EC 3.1.3.5, P5N) deficiency associated with hereditary nonspherocytic hemolytic anemia was first described by Valentine et al. (1974). We now report three female cases with this deficiency found in a Japanes