Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an italian family
Copyright policy )Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an italian family
A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined deficiency of these two enzymes located on different chromosomes. Only the G6PD deficiency seems to be responsible for the hemolytic crisis.
- University of Freiburg Germany
- University Hospital Würzburg Germany
- Universitäts-Kinderklinik Würzburg Germany
- Medizinische Fakultät Mannheim Germany
Male, Anemia, Hemolytic, Erythrocytes, Glucosephosphate Dehydrogenase Deficiency, Italy, Humans, Anemia, Hemolytic, Congenital Nonspherocytic, Child, Pedigree
Male, Anemia, Hemolytic, Erythrocytes, Glucosephosphate Dehydrogenase Deficiency, Italy, Humans, Anemia, Hemolytic, Congenital Nonspherocytic, Child, Pedigree
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).4 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!