1.
Braz. j. med. biol. res
;
24(2): 133-9, 1991. tab
Article
Dans Anglais
| LILACS
| ID: lil-99446
Résumé
A 27 year old Brazilian male of both Portuguese and Spanish origin presenting nonspherocytic chronic hemolytic anemia was found to have a rare glucose-6-phosphate dehydrogenase variant herein named Gd(-) Carapicuiba. The red blood cell enzyme variant is characterized by a moderate enzyme deficiency (47%), high Km for its substrates G6P and NADP, decreased activity against deamino-NADP, increased Ki for NADPH and decreased heat stability. The clinical signs of the patient are probably related to these properties of the enzyme variant
Sujets)
Adulte , Humains , Mâle , Anémie hémolytique congénitale non sphérocytaire/enzymologie , Érythrocytes/enzymologie , Déficit en glucose-6-phosphate-déshydrogénase/enzymologie , Glucose 6-phosphate dehydrogenase/génétique , Anémie hémolytique congénitale non sphérocytaire/complications , Variation génétique , Déficit en glucose-6-phosphate-déshydrogénase/complications , Glucose 6-phosphate dehydrogenase/sang , Hémolyse , Pedigree
2.
Article
Dans Anglais
| IMSEAR
| ID: sea-42502