Hereditary deficiency of glucosephosphate isomerase as a cause of nonspherocytic hemolytic anemia
✍ Scribed by Löhr, Georg W. ;Arnold, Heidwolf ;Blume, Karl G. ;Engelhardt, Rupert ;Beutler, Ernst
- Publisher
- Springer-Verlag
- Year
- 1973
- Weight
- 888 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1432-0584
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📜 SIMILAR VOLUMES
## Communicated by Andreas Gal Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI-Catalonia), is homozyg
## Introduction. Erythrocyte pyrimidine 5'-nucleotidase (5"ribonucleotide phosphohydrolase EC 3.1.3.5, P5N) deficiency associated with hereditary nonspherocytic hemolytic anemia was first described by Valentine et al. (1974). We now report three female cases with this deficiency found in a Japanes
A 16-month-old girl of Spanish origin with chronic hemolytic anemia and severe neuromuscular disease was found to have markedly reduced triosephosphate isomerase (TPI) activity in her erythrocytes, leukocytes, and plateletes. Both parents and some other family members had moderately reduced erythroc