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1976 1
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Page 1
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.
Fattizzo B, Giannotta JA, Cecchi N, Barcellini W. Fattizzo B, et al. Orphanet J Rare Dis. 2021 Oct 9;16(1):415. doi: 10.1186/s13023-021-02036-4. Orphanet J Rare Dis. 2021. PMID: 34627331 Free PMC article. Review.
Membrane defects include hereditary spherocytosis and elliptocytosis, and the group of hereditary stomatocytosis; glucose-6-phosphate dehydrogenase and pyruvate kinase, are the most common enzyme deficiencies. Among ultra-rare forms, it is worth reminding other enzy …
Membrane defects include hereditary spherocytosis and elliptocytosis, and the group of hereditary stomatocytosis; glucose-6-phosphate dehydr …
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'-nu …
Six enzymopathies of anaerobic glycolysis cause hemolytic anemia; lactate dehydrogenase deficiency does not. In 2,3-dip …
Molecular aspects of erythroenzymopathies associated with hereditary hemolytic anemia.
Miwa S, Fujii H. Miwa S, et al. Am J Hematol. 1985 Jul;19(3):293-305. doi: 10.1002/ajh.2830190313. Am J Hematol. 1985. PMID: 2990202 Review.
Since the discovery of glucose 6-phosphate dehydrogenase (G6PD) and of pyruvate kinase deficiencies, erythroenzymopathies associated with hereditary hemolytic anemia have been extensively investigated. ...The primary structures of only two normal red c …
Since the discovery of glucose 6-phosphate dehydrogenase (G6PD) and of pyruvate kinase deficiencies, erythroenzymopathies asso …
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.
Unable to synthesize adenosine phosphates from small precursor molecules, the red cell relies on certain salvage pathways to replenish its losses from the adenosine phosphate pool. The most important of these involve adenosine. Adenylate kinase deficiency, wh …
Unable to synthesize adenosine phosphates from small precursor molecules, the red cell relies on certain salvage pathways to replenish its l …
[Pathophysiology and laboratory tests of hemolytic anemia: with special reference to erythroenzymopathies].
Fujii H, Miwa S. Fujii H, et al. Rinsho Byori. 1989 Dec;37(12):1331-43. Rinsho Byori. 1989. PMID: 2693773 Review. Japanese.
Since the discovery of glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase deficiency, erythroenzymopathies associated with hereditary hemolytic anemia have been extensively investigated. ...An exception is a hemolytic …
Since the discovery of glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase deficiency, erythroenzym …
Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.
Miwa S, Fujii H. Miwa S, et al. Am J Hematol. 1996 Feb;51(2):122-32. doi: 10.1002/(SICI)1096-8652(199602)51:2<122::AID-AJH5>3.0.CO;2-#. Am J Hematol. 1996. PMID: 8579052 Free article. Review.
Pyruvate kinase (PK) deficiency is the most common and well-characterized enzyme deficiency in the glycolytic pathway, and it causes hereditary hemolytic anemia. ...Among rare enzymopathies, missense mutations have been determined in deficien …
Pyruvate kinase (PK) deficiency is the most common and well-characterized enzyme deficiency in the glycolytic pathway, …
[Hemolytic anemia due to abnormalities in erythrocyte nucleotide metabolism].
Masuda M, Mizoguchi H. Masuda M, et al. Nihon Rinsho. 1996 Sep;54(9):2473-7. Nihon Rinsho. 1996. PMID: 8890581 Review. Japanese.
Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiency of adenylate kinase and pyrimidine 5'-nucleotidase and hyperactivity of adenosine deaminase shorten the red cell lifesp …
Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficien …
Molecular basis of red cell enzymopathies associated with hereditary nonspherocytic hemolytic anemia.
Miwa S. Miwa S. Haematologia (Budap). 1989;22(4):215-31. Haematologia (Budap). 1989. PMID: 2560452 Review.
In the past few years, very rapid advances have been made in the field of red cell enzymopathies associated with hereditary nonspherocytic hemolytic anemia, particularly in molecular basis. Nucleotide sequence and amino acid sequence of normal human red cell enzymes …
In the past few years, very rapid advances have been made in the field of red cell enzymopathies associated with hereditary nonspherocytic …
Red cell enzymopathies as a model of inborn errors of metabolism.
Miwa S, Kanno H, Hirono A, Fujii H. Miwa S, et al. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:112-9. Southeast Asian J Trop Med Public Health. 1995. PMID: 8629088 Review.
The molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic anemia have been determined using molecular techniques. Pyruvate kinase (PK) deficiency is the most common and well-characterized enzyme deficiency involvin …
The molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic anemia have been determined using mol …
[Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia (author's transl)].
Waller HD, Benöhr HC. Waller HD, et al. Klin Wochenschr. 1976 Sep 1;54(17):803-21. doi: 10.1007/BF01469302. Klin Wochenschr. 1976. PMID: 184346 Review. German.
The detection of enzyme deficiencies in glycolytic and nucleotide metabolism of human red blood cells has enriched the pathophysiological knowledge on the origin of nonspherocytic hemolytic anemias (NSHA). ...Up to now only adenylate kinase and pyrimid …
The detection of enzyme deficiencies in glycolytic and nucleotide metabolism of human red blood cells has enriched the pathophysiolog …
14 results