The Experts below are selected from a list of 117 Experts worldwide ranked by ideXlab platform

Shiro Miwa - One of the best experts on this subject based on the ideXlab platform.

  • other Erythrocyte Enzyme deficiencies associated with non haematological symptoms phosphoglycerate kinase and phosphofructokinase deficiency
    Best Practice & Research Clinical Haematology, 2000
    Co-Authors: Hisaichi Fujii, Shiro Miwa
    Abstract:

    Phosphoglycerate kinase (PGK) deficiency is associated with hereditary haemolytic anaemia and often with central nervous system dysfunction and/or myopathy. Twenty-three families have been discovered with this condition. Nine have manifested both symptoms, six only haemolysis, and seven central nervous system dysfunction and/or myopathy without haemolysis; one case is asymptomatic. Among them, the structural abnormalities of 14 mutants, including 11 missense mutations, 1 gene deletion, 1 gene insertion, and 1 splicing mutation, have been identified. The correlation between the phenotypic and structural differences in PGK deficiency remains to be defined. Splenectomy obviates transfusion in most patients but does not correct the haemolytic disorder. Phosphofructokinase (PFK) deficiency is associated with myopathy and/or haemolysis. More than half reported had the typical features of glycogen storage disease type VII (Tarui disease). The other cases exhibited myopathy alone, haemolytic anaemia alone, or no clinical symptom at all. Eight missense, 1 nonsense, 1 frameshift and 5 splicing mutations have been determined in the PFK-M gene. In classic PFK-M deficiency, the avoidance of undue exertion is the key to prevent muscle symptoms.

  • Erythrocyte Enzyme activities in cord blood of extremely low birth weight infants
    American Journal of Hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight <1,000 g). The results were compared with those from normal adults and non-neonatal reticulocyte-rich controls. Statistical analysis revealed that activities of six Enzymes (glucosephosphate isomerase, phosphoglycerate kinase, monophosphoglycerate mutase, enolase, glucose-6-phosphate dehydrogenase (G6PD), and glutathione reductase) were significantly higher, and those of eight other Enzymes (phosphofructokinase, 6-phosphogluconate dehydrogenase (6PGD), glutathione peroxidase, adenylate kinase, adenosine deaminase, acetylcholinesterase, NADH methemoglobin reductase, and catalase) were lower in ELBWI taking their marked reticulocytosis into consideration. The 6PGD/G6PD ratio, which is consistently unchanged under various physiological and pathological conditions, was markedly reduced in ELBWI. Our results support the previous reports that neonatal Erythrocytes have a unique metabolic pattern which is different from that of adult Erythrocytes, and also suggest that the 6PGD/G6PD ratio might be an index for the developmental immaturity of fetal Erythrocytes. This is the first report describing the pattern of Erythrocyte Enzyme activities in ELBWI. Am. J. Hematol 62:88–92, 1999. © 1999 Wiley-Liss, Inc.

  • Erythrocyte Enzyme activities in cord blood of extremely low-birth-weight infants.
    American journal of hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight

Yayoi Miyazono - One of the best experts on this subject based on the ideXlab platform.

  • Erythrocyte Enzyme activities in cord blood of extremely low birth weight infants
    American Journal of Hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight <1,000 g). The results were compared with those from normal adults and non-neonatal reticulocyte-rich controls. Statistical analysis revealed that activities of six Enzymes (glucosephosphate isomerase, phosphoglycerate kinase, monophosphoglycerate mutase, enolase, glucose-6-phosphate dehydrogenase (G6PD), and glutathione reductase) were significantly higher, and those of eight other Enzymes (phosphofructokinase, 6-phosphogluconate dehydrogenase (6PGD), glutathione peroxidase, adenylate kinase, adenosine deaminase, acetylcholinesterase, NADH methemoglobin reductase, and catalase) were lower in ELBWI taking their marked reticulocytosis into consideration. The 6PGD/G6PD ratio, which is consistently unchanged under various physiological and pathological conditions, was markedly reduced in ELBWI. Our results support the previous reports that neonatal Erythrocytes have a unique metabolic pattern which is different from that of adult Erythrocytes, and also suggest that the 6PGD/G6PD ratio might be an index for the developmental immaturity of fetal Erythrocytes. This is the first report describing the pattern of Erythrocyte Enzyme activities in ELBWI. Am. J. Hematol 62:88–92, 1999. © 1999 Wiley-Liss, Inc.

  • Erythrocyte Enzyme activities in cord blood of extremely low-birth-weight infants.
    American journal of hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight

Kevin C. Kain - One of the best experts on this subject based on the ideXlab platform.

  • Pyruvate Kinase Deficiency and Malaria
    The New England journal of medicine, 2008
    Co-Authors: Kodjo Ayi, Gundula Min-oo, Lena Serghides, Maryanne Crockett, Melanie Kirby-allen, Ian Quirt, Philippe Gros, Kevin C. Kain
    Abstract:

    Malaria that is caused by Plasmodium falciparum is a significant global health problem. Genetic characteristics of the host influence the severity of disease and the ultimate outcome of infection, and there is evidence of coevolution of the plasmodium parasite with its host. In humans, pyruvate kinase deficiency is the second most common Erythrocyte Enzyme disorder. Here, we show that pyruvate kinase deficiency provides protection against infection and replication of P. falciparum in human Erythrocytes, raising the possibility that mutant pyruvate kinase alleles may confer a protective advantage against malaria in human populations in areas where the disease is endemic.

Akira Hirono - One of the best experts on this subject based on the ideXlab platform.

  • Erythrocyte Enzyme activities in cord blood of extremely low birth weight infants
    American Journal of Hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight <1,000 g). The results were compared with those from normal adults and non-neonatal reticulocyte-rich controls. Statistical analysis revealed that activities of six Enzymes (glucosephosphate isomerase, phosphoglycerate kinase, monophosphoglycerate mutase, enolase, glucose-6-phosphate dehydrogenase (G6PD), and glutathione reductase) were significantly higher, and those of eight other Enzymes (phosphofructokinase, 6-phosphogluconate dehydrogenase (6PGD), glutathione peroxidase, adenylate kinase, adenosine deaminase, acetylcholinesterase, NADH methemoglobin reductase, and catalase) were lower in ELBWI taking their marked reticulocytosis into consideration. The 6PGD/G6PD ratio, which is consistently unchanged under various physiological and pathological conditions, was markedly reduced in ELBWI. Our results support the previous reports that neonatal Erythrocytes have a unique metabolic pattern which is different from that of adult Erythrocytes, and also suggest that the 6PGD/G6PD ratio might be an index for the developmental immaturity of fetal Erythrocytes. This is the first report describing the pattern of Erythrocyte Enzyme activities in ELBWI. Am. J. Hematol 62:88–92, 1999. © 1999 Wiley-Liss, Inc.

  • Erythrocyte Enzyme activities in cord blood of extremely low-birth-weight infants.
    American journal of hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight

Yasuyuki Miyamoto - One of the best experts on this subject based on the ideXlab platform.

  • Erythrocyte Enzyme activities in cord blood of extremely low birth weight infants
    American Journal of Hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight <1,000 g). The results were compared with those from normal adults and non-neonatal reticulocyte-rich controls. Statistical analysis revealed that activities of six Enzymes (glucosephosphate isomerase, phosphoglycerate kinase, monophosphoglycerate mutase, enolase, glucose-6-phosphate dehydrogenase (G6PD), and glutathione reductase) were significantly higher, and those of eight other Enzymes (phosphofructokinase, 6-phosphogluconate dehydrogenase (6PGD), glutathione peroxidase, adenylate kinase, adenosine deaminase, acetylcholinesterase, NADH methemoglobin reductase, and catalase) were lower in ELBWI taking their marked reticulocytosis into consideration. The 6PGD/G6PD ratio, which is consistently unchanged under various physiological and pathological conditions, was markedly reduced in ELBWI. Our results support the previous reports that neonatal Erythrocytes have a unique metabolic pattern which is different from that of adult Erythrocytes, and also suggest that the 6PGD/G6PD ratio might be an index for the developmental immaturity of fetal Erythrocytes. This is the first report describing the pattern of Erythrocyte Enzyme activities in ELBWI. Am. J. Hematol 62:88–92, 1999. © 1999 Wiley-Liss, Inc.

  • Erythrocyte Enzyme activities in cord blood of extremely low-birth-weight infants.
    American journal of hematology, 1999
    Co-Authors: Yayoi Miyazono, Akira Hirono, Yasuyuki Miyamoto, Shiro Miwa
    Abstract:

    To investigate the features of Erythrocyte metabolism in extremely immature infants, we assayed 21 Enzyme activities and glutathione level in cord Erythrocytes from 28 extremely low-birth-weight infants (ELBWI; defined as birth weight