Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

Abstract

Glucosephosphate isomerase deficiency as the cause of macrocytic congenital nonspherocytic hemolytic anemia is described in three unrelated families. The biochemical properties of the variant glucosephosphate isomerases indicate that the patients have new variants, designated as GPI Kiel, GPI Hamburg, and GPI Homburg. The severity of the clinical symptoms… (More)
DOI: 10.1007/BF00320579

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