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Дефіцит 6-фосфоглюконатдегідрогенази

ORPHA:99135· ICD-10 D55.1· 6-phosphogluconate dehydrogenase deficiency

Визначення(English summary)

A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.