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Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

Blut

Jul 1, 1986

Stefan W EberW Schröter

PMID: 3719111

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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 Kie...read more

Mentioned in this Paper

Glycosylphosphatidylinositol Deficiency
Glucosephosphate Isomerase
Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital
Microangiopathic Hemolytic Anemia
Inborn Errors of Metabolism
Electrophoresis, Starch Gel
Neuromuscular Manifestations
Diseases in Twins
fructose-6-phosphate
Paper Details
References
  • References16
  • Citations8
12
  • References16
  • Citations8
1

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

Blut

Jul 1, 1986

Stefan W EberW Schröter

PMID: 3719111

DOI:

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 Kie...read more

Mentioned in this Paper

Glycosylphosphatidylinositol Deficiency
Glucosephosphate Isomerase
Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital
Microangiopathic Hemolytic Anemia

Related Papers

Paper Details
References
  • References16
  • Citations8
12
  • References16
  • Citations8
1

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