These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Hereditary disorders of enzymes in the Embden-Meyerhof pathway of glycolysis.
    Author: Miwa S.
    Journal: Haematologia (Budap); 1982 Dec; 15(4):371-9. PubMed ID: 6225712.
    Abstract:
    Recent advances in hereditary disorders of red cell enzymes in the Embden-Meyerhof pathway and the Rapoport-Luebering cycle are discussed with a stress on pyruvate kinase deficiency. Broad genetic heterogeneity exists in all the known erythroenzymopathies. The primary structure of normal human red cell phosphoglycerate kinase has been determined recently and single amino acid substitutions of four mutant phosphoglycerate kinases have been clarified. These studies allowed an analysis of the structure-function relationships at the molecular level more precisely than has been possible previously. It is the consensus of the investigators working in this field that the pathogenesis in three-quarters of the congenital nonspherocytic hemolytic anemia patients remains unknown even after adequate red cell enzyme studies and isopropanol test. This means that broad studies have to be carried out in this field.
    [Abstract] [Full Text] [Related] [New Search]