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Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase

✍ Scribed by Axel Kahn; Jeanne Etiemble; Marie Claire Meienhofer; Pierre Bovin


Book ID
115820967
Publisher
Elsevier Science
Year
1975
Tongue
English
Weight
402 KB
Volume
61
Category
Article
ISSN
0009-8981

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## Abstract Two kindreds of phosphofructokinase (PFK) deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy were found in Japan. Both probands had jaundice, gallstones, and slight to moderate degree of exercise intolerance. They showed decreased level of red cell P