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Red cell glucosephosphate isomerase deficiency: two new mutant enzymes. 1980

A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260 Female Females
D005956 Glucose-6-Phosphate Isomerase An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA. Glucosephosphate Isomerase,Phosphoglucose Isomerase,Phosphohexose Isomerase,Autocrine Motility Factor,Isomerase, Glucose 6 Phosphate,Neuroleukin,Tumor Autocrine Motility Factor,Tumor-Cell Autocrine Motility Factor,Factor, Autocrine Motility,Glucose 6 Phosphate Isomerase,Isomerase, Glucose-6-Phosphate,Isomerase, Glucosephosphate,Isomerase, Phosphoglucose,Isomerase, Phosphohexose,Motility Factor, Autocrine,Tumor Cell Autocrine Motility Factor
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000746 Anemia, Hemolytic, Congenital Nonspherocytic Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE. Anemia, Congenital Nonspherocytic Hemolytic,Anemia, Hemolytic Congenital, Nonspherocytic,Congenital Nonspherocytic Hemolytic Anemia,Hemolytic Anemia, Congenital Nonspherocytic

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A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
[Glucosephosphate isomerase deficiency].
March 1980, Nederlands tijdschrift voor geneeskunde,
A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
[Glucosephosphate isomerase deficiency].
August 1973, Nihon rinsho. Japanese journal of clinical medicine,
A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
A new variant of glucosephosphate isomerase deficiency.
October 1975, Humangenetik,
A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht).
December 1975, Clinica chimica acta; international journal of clinical chemistry,
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A new variant of glucosephosphate isomerase deficiency: GPI-Kortrijk.
July 1977, Clinica chimica acta; international journal of clinical chemistry,
A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
Glucosephosphate-isomerase (GPI) deficiency: GPI elyria.
June 1974, Annals of internal medicine,
A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
Hereditary glucosephosphate isomerase deficiency. A review.
December 1974, American journal of clinical pathology,
A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
Glucosephosphate isomerase deficiency in a Dutch family.
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A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
Unique phenotypic expression of glucosephosphate isomerase deficiency.
January 1975, American journal of human genetics,
A Zanella, and C Izzo, and G Fagnani, and F Zanuso, and L Perroni, and M Mariani, and M T Colotti, and G Sirchia
[Clinical and biochemical studies of glucosephosphate isomerase of normal human erythrocytes and in glucosephosphate isomerase deficiency].
November 1970, Klinische Wochenschrift,
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