Deficiency of pyrimidine 5′-nucleotidase in human leukocytes
✍ Scribed by D. de Korte; C. C. H. van Doorn; J. M. J. Sijstermans; A. H. van Gennip; D. Roos
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 473 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0141-8955
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📜 SIMILAR VOLUMES
A new case of a defect in red cell pyrimidine 5'-nucleotide (P5N) activity was found in a large family from Guadeloupe in the West Indies. The propositus presented a characteristic hemolytic anemia with red cell basophilic stippling, an increased GSH level, and a shift of the peak in absorbance of n
The mutant enzyme of a patient with hereditary pyrimidine 5'-nucleotidase deficiency was analyzed biochemically. Partially purified by DEAE-Sephadex and concentrated by ultrafiltration, the enzyme had a high Km for the substrate uridine monophosphate. Utilization of the substrate cytidine monophosph
We report a hereditary hemolytic anemia associated with a severe erythrocyte pyrimidine 5'-nucleotidase deficiency in a Spanish family of five members in which the parents are first cousins. Both parents exhibited decreased nucleotidase activity without clinical or hematologic abnormalities. Two chi