Detection of phosphohexose isomerase deficiency in human fibroblast cultures

@article{Krone2004DetectionOP,
  title={Detection of phosphohexose isomerase deficiency in human fibroblast cultures},
  author={Winfrid Krone and G. Schneider and Dorothea Schulz and H. Arnold and Karl G. Blume},
  journal={Humangenetik},
  year={2004},
  volume={10},
  pages={224-230}
}
SummaryFibroblasts cultured from two patients afflicted with nonspherocytic hemolytic anemia due to phosphohexose isomerase (PHI) deficiency show on the average 53% of the normal PHI-activity. The presence of the defective enzyme in cells derived from the heterozygous relatives of the patients is revealed by an intermediate average specific activity; the wide range of PHI-activities observed in these cells, however, precludes the detection of heteozygotes. The PHI-genotypes of the patients and… 

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Klinische und biochemische Untersuchungen zur Glucosephosphatisomerasc normaler menschlicher Erythrocyten und bei Glucosephosphatisomerase-Mangel

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Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes.

Abstract Deficient activity of erythrocyte and leukocyte glucosephosphate isomerase was found in three siblings with hereditary hemolytic anemia who were unrelated to the single patient previously ...

Klinische und biochemische Untersuchungen zur Glucosephosphatisomerasc normaler menschlicher Erythrocyten und bei Glucosephosphatisomerase-Mangel

In a young man from a German family with a hereditary nonspherocytic hemolytic anemia the erythrocyte glucose phosphate isomerase was decreased to 25%.

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