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GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency

Annals of Hematology

Oct 1, 1993

O ShalevE Beutler

PMID: 8218542

Abstract

Glucosephosphate isomerase (GPI) deficiency is an unusual cause of hereditary nonspherocytic hemolytic anemia. The disease, inherited as an autosomal recessive disorder, is most often manifested by symptoms and signs of chronic hemolysis, ameliorated by splenectomy. We recently diagnose...read more

Mentioned in this Paper

Anemia, Hemolytic, Congenital Nonspherocytic
Glycosylphosphatidylinositol Deficiency
Signs and Symptoms
Variation (Genetics)
Hemolysis (Biological Funtion)
Biophysics
Autosomal Recessive Inheritance
Family Health Status
Congenital Chromosomal Disease
Autocrine Motility Factor
Paper Details
References
  • References25
  • Citations6
123

GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency

Annals of Hematology

Oct 1, 1993

O ShalevE Beutler

PMID: 8218542

DOI:

Abstract

Glucosephosphate isomerase (GPI) deficiency is an unusual cause of hereditary nonspherocytic hemolytic anemia. The disease, inherited as an autosomal recessive disorder, is most often manifested by symptoms and signs of chronic hemolysis, ameliorated by splenectomy. We recently diagnose...read more

Mentioned in this Paper

Anemia, Hemolytic, Congenital Nonspherocytic
Glycosylphosphatidylinositol Deficiency
Signs and Symptoms
Variation (Genetics)
Hemolysis (Biological Funtion)
Biophysics
Autosomal Recessive Inheritance
Family Health Status
Congenital Chromosomal Disease
Autocrine Motility Factor

Related Papers

Paper Details
References
  • References25
  • Citations6
123
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