-
[文献書誌] Suzuki, Y.et al: "Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate." Clinica Chemica Acta. 251. 41-52 (1996)
-
[文献書誌] Aoki, Y.et al.: "Characterization of mutant holocarboxylase synthetase (HCS) : a Km was not elevated in a patient with HCS deficiency." Pediatric Research. 42:6. 849-854 (1997)
-
[文献書誌] Ikeda, H.et al.: "Molecular analysis of dihydropteridine reductase deficiency : identification of two novel mutations in Japanese patients." Human Genetics. 100. 637-642 (1997)
-
[文献書誌] Wataya, K.et al.: "Two CPT2 mutations in three patients wish carnitine palmitoyltransferase II deficiency : functional analysis and association with polymorphic haplotypes and two clinical phenotypes." Human Mutation. 11 (in press). (1998)
-
[文献書誌] Kure, S.et al.: "A missense mutations (His42Arg) in the T-protein gene from a large Israeli-Arad kindred with nonketotic hyperglycinemia." Human Genetics. (in press). (1998)
-
[文献書誌] Kure, S.et al.: "A one-base deletion (183delC) and a missense mutations (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia." Journal of Human Genetics. (in press). (1998)
-
[文献書誌] Suzuki, Y.et al.: "Methods in Enzymology (279)" Academic Press, 386-393 (1997)