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Page 1
Hemolytic anemias and erythrocyte enzymopathies.
Valentine WN, Tanaka KR, Paglia DE. Valentine WN, et al. Ann Intern Med. 1985 Aug;103(2):245-57. doi: 10.7326/0003-4819-103-2-245. Ann Intern Med. 1985. PMID: 2990276 Review.
Six enzymopathies of anaerobic glycolysis cause hemolytic anemia; lactate dehydrogenase deficiency does not. In 2,3-diphosphoglycerate mutase deficiency, 2,3-diphosphoglycerate is greatly reduced and asymptomatic polycythemia is noted. Pyrimidine-5'-nucleotidase def …
Six enzymopathies of anaerobic glycolysis cause hemolytic anemia; lactate dehydrogenase deficiency does not. In 2,3-diphosphog …
Erythrocyte disorders of purine and pyrimidine metabolism.
Valentine WN, Paglia DE. Valentine WN, et al. Hemoglobin. 1980;4(5-6):669-81. doi: 10.3109/03630268008997736. Hemoglobin. 1980. PMID: 6254919 Review.
Other features are chronic hemolytic anemia, splenomegaly, and a profound increase in basophilic stippling on the stained blood film. ...Certain other rare clinical syndromes involving disturbed nucleotide metabolism also are detectable by red cell ass …
Other features are chronic hemolytic anemia, splenomegaly, and a profound increase in basophilic stippling on the stained bloo …
Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.
Chiarelli LR, Fermo E, Zanella A, Valentini G. Chiarelli LR, et al. Hematology. 2006 Feb;11(1):67-72. doi: 10.1080/10245330500276667. Hematology. 2006. PMID: 16522554 Review.
Pyrimidine 5' -nucleotidase (P5'N-1) deficiency is the third most common enzyme abnormality after glucose 6-phosphate dehydrogenase and pyruvate kinase causing hereditary non-spherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait. . …
Pyrimidine 5' -nucleotidase (P5'N-1) deficiency is the third most common enzyme abnormality after glucose 6-phosphate dehydrogenase and pyru …
Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
Zanella A, Bianchi P, Fermo E, Valentini G. Zanella A, et al. Br J Haematol. 2006 Apr;133(2):113-23. doi: 10.1111/j.1365-2141.2006.05992.x. Br J Haematol. 2006. PMID: 16611302 Free article. Review.
Hereditary pyrimidine 5'-nucleotidase (P5'N) deficiency is the most frequent abnormality of the red cell nucleotide metabolism causing hereditary non-spherocytic haemolytic anaemia. The disorder is usually characterised by mild-to-moderate haemolytic anaemia …
Hereditary pyrimidine 5'-nucleotidase (P5'N) deficiency is the most frequent abnormality of the red cell nucleotide metabolism …