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2,257 results

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Page 1
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.
Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y. Kure S, et al. Among authors: kubota m. Ann Neurol. 2006 May;59(5):862-7. doi: 10.1002/ana.20853. Ann Neurol. 2006. PMID: 16634033
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Yoichi S, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y. Kojima K, et al. Among authors: kubota m. Mol Genet Metab. 2004 Apr;81(4):343-6. doi: 10.1016/j.ymgme.2003.12.004. Mol Genet Metab. 2004. PMID: 15059622
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y. Yang X, et al. Among authors: kubota m. Hum Genet. 2001 Nov;109(5):526-34. doi: 10.1007/s004390100603. Epub 2001 Oct 5. Hum Genet. 2001. PMID: 11735028
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
Nagasaka H, Yorifuji T, Murayama K, Kubota M, Kurokawa K, Murakami T, Kanazawa M, Takatani T, Ogawa A, Ogawa E, Yamamoto S, Adachi M, Kobayashi K, Takayanagi M. Nagasaka H, et al. Among authors: kubota m. Eur J Pediatr. 2006 Sep;165(9):618-24. doi: 10.1007/s00431-006-0143-y. Epub 2006 May 16. Eur J Pediatr. 2006. PMID: 16703326 Clinical Trial.
Early clinical signs and treatment of Menkes disease.
Fujisawa C, Kodama H, Sato Y, Mimaki M, Yagi M, Awano H, Matsuo M, Shintaku H, Yoshida S, Takayanagi M, Kubota M, Takahashi A, Akasaka Y. Fujisawa C, et al. Among authors: kubota m. Mol Genet Metab Rep. 2022 Feb 17;31:100849. doi: 10.1016/j.ymgmr.2022.100849. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35242581 Free PMC article.
Distinct tau pathologies in the nucleus basalis of Meynert between early-onset and late-onset Alzheimer's disease patients revealed by positron emission tomography.
Suzuki H, Tagai K, Ono M, Shimizu H, Endo H, Matsumoto H, Kubota M, Kataoka Y, Moriguchi S, Kurose S, Ichihashi M, Shinotoh H, Matsuoka K, Kokubo N, Tatebe H, Matsuura S, Yamamoto Y, Momota Y, Kawamura K, Zhang MR, Takado Y, Shimada H, Tokuda T, Onaya M, Mimura M, Kakita A, Sahara N, Uchida H, Higuchi M, Takahata K. Suzuki H, et al. Among authors: kubota m. J Alzheimers Dis. 2024 Nov 11:13872877241297382. doi: 10.1177/13872877241297382. Online ahead of print. J Alzheimers Dis. 2024. PMID: 39529384
2,257 results