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Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation

✍ Scribed by Ada Repiso; Baldomero Oliva; Joan-Lluis Vives Corrons; Josep Carreras; Fernando Climent

Book ID
116270302
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
195 KB
Volume
1740
Category
Article
ISSN
0925-4439

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πŸ“œ SIMILAR VOLUMES

Glucose phosphate isomerase deficiency w
Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: Clinical and familial studies
✍ Vives-Corrons, J. L. ;Rozman, C. ;Kahn, A. ;Carrera, A. ;Triginer, J. πŸ“‚ Article πŸ“… 1975 πŸ› Springer-Verlag βš– 348 KB

A new case of glucose phosphate isomerase deficiency associated with cogenital nonspherocytic hemolytic anemia is described in a 12-year-old girl of Spanish origin. The parents exhibited erythrocyte glucose phosphate isomerase activity between 50 and 60% of normal. The enzyme of the propositus had n