Mikami H - Search Results

1

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.

Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G. Shoji Y, et al. Among authors: mikami h. Hum Mutat. 2002 Nov;20(5):375-81. doi: 10.1002/humu.10140. Hum Mutat. 2002. PMID: 12402335

2

Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

Kikawa Y, Inuzuka M, Jin BY, Kaji S, Yamamoto Y, Shigematsu Y, Nakai A, Taketo A, Ohura T, Mikami H, et al. Kikawa Y, et al. Among authors: mikami h. Biochem Biophys Res Commun. 1995 May 25;210(3):797-804. doi: 10.1006/bbrc.1995.1729. Biochem Biophys Res Commun. 1995. PMID: 7763253

3

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.

Ikeda H, Matsubara Y, Mikami H, Kure S, Owada M, Gough T, Smooker PM, Dobbs M, Dahl HH, Cotton RG, Narisawa K. Ikeda H, et al. Among authors: mikami h. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

4

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.

Ogasawara M, Matsubara Y, Mikami H, Narisawa K. Ogasawara M, et al. Among authors: mikami h. Hum Mol Genet. 1994 Jun;3(6):867-72. doi: 10.1093/hmg/3.6.867. Hum Mol Genet. 1994. PMID: 7951229

5

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.

Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K. Mikami H, et al. J Hum Genet. 1999;44(1):35-9. doi: 10.1007/s100380050103. J Hum Genet. 1999. PMID: 9929975

6

Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.

Sumi S, Matsuura T, Kidouchi K, Togari H, Kubota M, Kitou O, Mikami H, Ohura T, Matsuda I, Wada Y. Sumi S, et al. Among authors: mikami h. Int J Mol Med. 2000 Aug;6(2):177-80. doi: 10.3892/ijmm.6.2.177. Int J Mol Med. 2000. PMID: 10891562

7

Prenatal diagnosis and therapy for a patient with vitamin B12-responsive methylmalonic acidaemia.

Soda H, Ohura T, Yoshida I, Aramaki S, Aoki K, Inokuchi T, Mikami H, Narisawa K. Soda H, et al. Among authors: mikami h. J Inherit Metab Dis. 1995;18(3):295-8. doi: 10.1007/BF00710418. J Inherit Metab Dis. 1995. PMID: 7474895

8

Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.

Mikami H, Matsubara Y, Hayasaka K, Narisawa K, Obinata M, Watanabe A, Haginoya K, Miyabayashi S, Tada K, Dahl HH. Mikami H, et al. J Inherit Metab Dis. 1990;13(5):787-91. doi: 10.1007/BF01799589. J Inherit Metab Dis. 1990. PMID: 2174091 No abstract available.

9

Elevated serum levels of neutrophil elastase in patients with influenza virus-associated encephalopathy.

Sun G, Ota C, Kitaoka S, Chiba Y, Takayanagi M, Kitamura T, Yamamoto K, Fujie H, Mikami H, Uematsu M, Hino-Fukuyo N, Munakata M, Kure S, Haginoya K. Sun G, et al. Among authors: mikami h. J Neurol Sci. 2015 Feb 15;349(1-2):190-5. doi: 10.1016/j.jns.2015.01.017. Epub 2015 Jan 21. J Neurol Sci. 2015. PMID: 25626769

10

Assignment of the uteroferrin gene (ACP5) to swine chromosome 2q12-->q21 by fluorescence in situ hybridization.

Yasue H, Kusumoto H, Mikami H. Yasue H, et al. Among authors: mikami h. Cytogenet Cell Genet. 1995;71(3):249-52. doi: 10.1159/000134120. Cytogenet Cell Genet. 1995. PMID: 7587387

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