NDLI: Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita

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Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita

Content Provider	Semantic Scholar
Author	Miwa, Shiro Fujii, Hisaichi Nakashima, Koji Miura, Yukari Yamada, Kaneo Hagiwara, Takashi Fukuda, Mitsuyuki
Copyright Year	2004
Abstract	SummaryThree new glucose-6-phosphate dehydrogenase (G6PD) variants, which showed electrophoretically normal mobility and were associated with chronic nonspherocytic hemolytic anemia, were found in Japan. G6PD Ogikubo, found in a 17-year-old male whose red cells contained 3% of normal enzyme activity, had normal Km G6P, normal Km NADP, normal utilization of deamino-NADP, decreased heat stability, and a normal pH curve. G6PD Yokohama, characterized from a 15-year-old male, had 1.9% of normal enzyme activity, normal Km G6P, normal Km NADP, low Ki NADPH, normal utilizations of both 2-deoxy-G6P and deamino-NADP, decreased heat stability, and normal pH curve. G6PD Akita, characterized from a 56-year-old male, had an undetectably low activity when hemolysate was examined, normal Km G6P, normal Km NADP, normal Ki NADPH, normal utilizations of both 2-deoxy-G6P and deamino-NADP, decreased heat stability, and normal pH curve.The degree of hemolytic anemia was moderate to mild in all three patients.
Starting Page	11
Ending Page	17
Page Count	7
File Format	PDF HTM / HTML
DOI	10.1007/BF00277568
Alternate Webpage(s)	https://page-one.springer.com/pdf/preview/10.1007/BF00277568
PubMed reference number	730178
Alternate Webpage(s)	https://doi.org/10.1007/BF00277568
Journal	Medline
Volume Number	45
Journal	Human Genetics
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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