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
Fluorometric analysts of glycolytic intermediates in human red blood cells
Biochemical MedicineAugust 1, 1973Herwig Niessner, Elke Beutler
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies
Pediatric ResearchJanuary 1, 1974W SchröterW Hüther
Detection of phosphohexose isomerase deficiency in human fibroblast cultures
HumangenetikJanuary 1, 1970Wilhelm KroneKarl G Blume1
Evidence against the occurrence of tissue-specific variants and isoenzymes of phosphoglucose isomerase
Archives of Biochemistry and BiophysicsJuly 1, 1972D Michael PayneRobert W Gracy
Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes
The New England Journal of MedicineJanuary 9, 1969Donald E PagliaW N Valentine
A screening method for liver glycogen diseases
Archives of Disease in ChildhoodJune 1, 1969James Alfred FernandesJ H van de Kamer
Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (Pompe's disease)
Clinica Chimica Acta; International Journal of Clinical ChemistryDecember 1, 1971Simone WyssW C. Hülsmann
Combined glucosephosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of the erythrocytes: a new haemolytic syndrome
British Journal of HaematologyMarch 1, 1971W SchröterD SchraderGlucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme
Pediatric ResearchJanuary 1, 1974Hays L ArnoldB Wonneberger
Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia
The Journal of PediatricsOctober 1, 1974John J Hutton, R R Chilcote
1
- References10
- Citations9
Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis
Human GeneticsFebruary 16, 1978Amina KahnClaude GriscelliAdvances in hereditary red cell enzyme anomalies
Human GeneticsJanuary 1, 1979Amina KahnJean-François DreyfusA combined system for the study of glutathione metabolism in erythrocytes
Clinica Chimica Acta; International Journal of Clinical ChemistryMay 2, 1979Yuichi IshidaSoichi Miwa
Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency
BlutDecember 1, 1979Hays L Arnold
Genetic diagnostic studies for mental retardation
Current Problems in PediatricsMarch 1, 1978Arthur L. Beaudet
Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis
Journal of Medical GeneticsJune 1, 1979A G WhitelawM D CrawfurdClinical symptoms and biochemical properties of three new glucosephosphate isomerase variants
BlutJuly 1, 1986Stefan W EberW Schröter
Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn
Klinische WochenschriftApril 15, 1977W Schröter, W TillmannExcessive hepatic glycogen storage in glucosephosphate isomerase deficiency
Acta paediatrica ScandinavicaMay 1, 1977Jean-Pierre Van Biervliet, G E J Staal
1
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Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis
Human GeneticsFebruary 16, 1978
Amina KahnClaude Griscelli
Glucosephosphate isomerase deficiency in a Dutch family
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
Related Papers
Paper Details
References
- References10
- Citations9
Fluorometric analysts of glycolytic intermediates in human red blood cells
Biochemical MedicineAugust 1, 1973Herwig Niessner, Elke BeutlerGlucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies
Pediatric ResearchJanuary 1, 1974W SchröterW HütherDetection of phosphohexose isomerase deficiency in human fibroblast cultures
HumangenetikJanuary 1, 1970Wilhelm KroneKarl G Blume1Evidence against the occurrence of tissue-specific variants and isoenzymes of phosphoglucose isomerase
Archives of Biochemistry and BiophysicsJuly 1, 1972D Michael PayneRobert W GracyOccurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes
The New England Journal of MedicineJanuary 9, 1969Donald E PagliaW N ValentineA screening method for liver glycogen diseases
Archives of Disease in ChildhoodJune 1, 1969James Alfred FernandesJ H van de KamerChoice of leucocyte preparation in the diagnosis of glycogen storage disease type II (Pompe's disease)
Clinica Chimica Acta; International Journal of Clinical ChemistryDecember 1, 1971Simone WyssW C. HülsmannCombined glucosephosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of the erythrocytes: a new haemolytic syndrome
British Journal of HaematologyMarch 1, 1971W SchröterD SchraderGlucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme
Pediatric ResearchJanuary 1, 1974Hays L ArnoldB WonnebergerGlucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia
The Journal of PediatricsOctober 1, 1974John J Hutton, R R Chilcote
1
- References10
- Citations9
Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis
Human GeneticsFebruary 16, 1978Amina KahnClaude GriscelliAdvances in hereditary red cell enzyme anomalies
Human GeneticsJanuary 1, 1979Amina KahnJean-François DreyfusA combined system for the study of glutathione metabolism in erythrocytes
Clinica Chimica Acta; International Journal of Clinical ChemistryMay 2, 1979Yuichi IshidaSoichi MiwaInherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency
BlutDecember 1, 1979Hays L ArnoldGenetic diagnostic studies for mental retardation
Current Problems in PediatricsMarch 1, 1978Arthur L. BeaudetCongenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis
Journal of Medical GeneticsJune 1, 1979A G WhitelawM D CrawfurdClinical symptoms and biochemical properties of three new glucosephosphate isomerase variants
BlutJuly 1, 1986Stefan W EberW SchröterCongenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn
Klinische WochenschriftApril 15, 1977W Schröter, W TillmannExcessive hepatic glycogen storage in glucosephosphate isomerase deficiency
Acta paediatrica ScandinavicaMay 1, 1977Jean-Pierre Van Biervliet, G E J Staal
1
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