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Citation: J. Akanuma et al., Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene, J HUM GENET, 45(6), 2000, pp. 337-341

Authors: Fujii, K Matsubara, Y Akanuma, J Takahashi, K Kure, S Suzuki, Y Imaizumi, M Iinuma, K Sakatsume, O Rinaldo, P Narisawa, K

Citation: K. Fujii et al., Mutation Detection by TaqMan-allele specific amplification: Application tomolecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency, HUM MUTAT, 15(2), 2000, pp. 189-196

Authors: Yoshida, Y Akanuma, J Tochikubo, S Hoshi, A Matsuura, Y Homma, M Yamamoto, T

Citation: Y. Yoshida et al., Slowly progressive dystonia following central pontine and extrapontine myelinolysis, INTERN MED, 39(11), 2000, pp. 956-960

Authors: Takahashi, K Akanuma, J Matsubara, Y Fujii, K Kure, S Suzuki, Y Wataya, K Sakamoto, O Aoki, Y Ogasawara, M Ohura, T Miyabayashi, S Narisawa, K

Citation: K. Takahashi et al., Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia, AM J MED G, 92(2), 2000, pp. 90-94

Authors: Akanuma, J Nishigaki, T Fujii, K Matsubara, Y Inui, K Takahashi, K Kure, S Suzuki, Y Ohura, T Miyabayashi, S Ogawa, E Iinuma, K Okada, S Narisawa, K

Citation: J. Akanuma et al., Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells, AM J MED G, 91(2), 2000, pp. 107-112

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Citation: Y. Nagasaki et al., Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer, PEDIAT RES, 45(4), 1999, pp. 465-473