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Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study

✍ Scribed by F. Ajmar; G. Lamedica; C. Garrè; R. Ravazzolo; M. Sessarego; A. Campostano

Publisher
Springer
Year
1979
Tongue
English
Weight
254 KB
Volume
52
Category
Article
ISSN
0340-6717

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✦ Synopsis

A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.

📜 SIMILAR VOLUMES

Congenital 6-phosphogluconate dehydrogen
Congenital 6-phosphogluconate dehydrogenase (6PGD) deficiency associated with chronic hemolytic anemia in a Spanish family
✍ Corrons, J. Ll. Vives; Colomer, D.; Pujades, A.; Rovira, A.; Aymerich, M.; Merin 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 615 KB

Clinical and metabolic studies were performed in four members of a Spanish family with partial (50%) 6 phosphogluconate dehydrogenase (6PGD) deficiency. In all cases the activities of 6 phosphogluconolactone (6PGL) and glutathione reductase (GR) were normal, and the molecular characterization perfor