[A case of congenital non-spherocytic hemolytic anemia caused by enzyme deficiency in pyruvate kinase].
About a familial observation of PK deficiency, the authors emphasize the important clinical and biochemical heterogeneity. Interest of isotopic explorations in the therapeutic decision of splenectomy.
D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D011770:Pyruvate Kinase / Q000172:deficiency*; D013156:Splenectomy
D011770:Pyruvate Kinase
A propos d'un cas d'anémie hémolytique congénitale non sphérocytaire par déficit enzymatique en pyruvate-kinase.