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Thirteen cases of pyruvate kinase deficiency found in Japan

✍ Scribed by Yoji Ishida; Dr. Shiro Miwa; Hisaichi Fujii; Noboru Fujinami; Susumu Takegawa; Kunio Yamato

Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
598 KB
Volume
10
Category
Article
ISSN
0361-8609

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Two cases of phosphofructokinase deficie
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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

Electrophoretic demonstration of heteroz
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The defective PK variant of a patient with a severe form of hemolytic anemia was characterized by its inability to undergo a normal 'proteolytic maturation.' In obligatory heterozygotes it could be proved that red cells contained different PK species, some of them sensitive and the others partially