Research Topics | Reiko AkagiSummaryCountry: Japan Publications
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Publications
delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutationsReiko Akagi
Department of Nutritional Science, Okayama Prefectural University, Soja, Japan
Mol Genet Metab 87:329-36. 2006..This case represents the molecular analysis of the ALAD gene defects in the first case of ADP identified in North America, who is a compound heterozygote for two novel ALAD gene defects...
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patientReiko Akagi
Okayama Prefectural University, Japan
Br J Haematol 132:237-43. 2006..This patient thus represents the first case of porphyria where both CPO and ALAD deficiencies were demonstrated at the molecular level...
[Diversity of physiological functions mediated by heme metabolism]Reiko Akagi
Faculty of Health and Welfare Science, Okayama Prefectural University, Japan
Seikagaku 79:441-5. 2007
Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-Rikako Inoue
Department of Nutritional Science, Okayama Prefectural University, 111 Kuboki, Soja city 719 1197, Japan
J Clin Biochem Nutr 43:143-53. 2008....
A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyriaYumiko Yasui
Faculty of Health and Welfare Science, Okayama Prefectural University, 111 Kuboki, Soja shi 719 1197, Japan
Clin Sci (Lond) 102:501-6. 2002..These results indicate that the combination of a 16 base pair deletion and low expression of the wild-type allelic variant is responsible for EPP in this pedigree...
Late-onset porphyrias: what are they?Shigeru Sassa
Laboratory of Biochemical Hematology, The Rockefeller University, New York, NY 10021, USA
Cell Mol Biol (Noisy-le-grand) 48:97-101. 2002....
[Gene defects identified in porphyrias and their participation in onset of this disease]Reiko Akagi
Nippon Yakurigaku Zasshi 130:266-9. 2007
