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Glucosephosphate isomerase deficiency in a Dutch family

Acta paediatrica Scandinavica

Nov 1, 1975

Jean-Pierre Van Biervliet

PMID: 1189910

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Abstract

A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability ...read more

Mentioned in this Paper

Congenital Disorder of Glycosylation Type 1B
Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital
Specimen Type - Leukocytes
Glutathione Measurement
Erythrocytes
Malnutrition
Specimen Type - Erythrocytes
Glutathione
Blood Platelets
Paper Details
References
  • References10
  • Citations9
1

Glucosephosphate isomerase deficiency in a Dutch family

Acta paediatrica Scandinavica

Nov 1, 1975

Jean-Pierre Van Biervliet

PMID: 1189910

DOI:

Abstract

A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability ...read more

Mentioned in this Paper

Congenital Disorder of Glycosylation Type 1B
Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital
Specimen Type - Leukocytes
Glutathione Measurement

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Paper Details
References
  • References10
  • Citations9
1

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