Shigeo Kure
Department of Biochemical Genetics
Tohoku University School of Medicine
Sendai
Japan
Name/email consistency: high
- Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. Kure, S., Kojima, K., Ichinohe, A., Maeda, T., Kalmanchey, R., Fekete, G., Berg, S.Z., Filiano, J., Aoki, Y., Suzuki, Y., Izumi, T., Matsubara, Y. Ann. Neurol. (2002)
- Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia. Kure, S., Kojima, K., Kudo, T., Kanno, K., Aoki, Y., Suzuki, Y., Shinka, T., Sakata, Y., Narisawa, K., Matsubara, Y. J. Hum. Genet. (2001)
- Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations. Kure, S., Rolland, M.O., Leisti, J., Mandel, H., Sakata, Y., Tada, K., Matsubara, Y., Narisawa, K. Prenat. Diagn. (1999)
- A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia. Kure, S., Mandel, H., Rolland, M.O., Sakata, Y., Shinka, T., Drugan, A., Boneh, A., Tada, K., Matsubara, Y., Narisawa, K. Hum. Genet. (1998)
- Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. Kure, S., Sakata, Y., Miyabayashi, S., Takahashi, K., Shinka, T., Matsubara, Y., Hoshino, H., Narisawa, K. J. Hum. Genet. (1998)
- A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. Kure, S., Shinka, T., Sakata, Y., Osamu, N., Takayanagi, M., Tada, K., Matsubara, Y., Narisawa, K. J. Hum. Genet. (1998)
- Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. Biochem. Biophys. Res. Commun. (1998)
