Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family

In a 1-year-old German boy a GPI deficiency was found to be the cause of a chronic nonspherocytic hemolytic anemia with recurrent hemolytic crises. Because of consanguinity of the parents, the patient is true homozygote. The investigation of the biochemical properties of the deficient enzyme reveale...

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Veröffentlicht in:	Blut 1980-02, Vol.40 (2), p.107-115
Hauptverfasser:	Arnold, H, Löhr, G W, Hasslinger, K, Podgajny, T
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia, Hemolytic, Congenital Nonspherocytic - etiology Anemia, Hemolytic, Congenital Nonspherocytic - genetics Consanguinity Electrophoresis Homozygote Humans Infant Male Pedigree
Online-Zugang:	Volltext
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