Inui K - Search Results

1

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.

Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, et al. Yoshida K, et al. Among authors: inui k. Ann Neurol. 1992 Mar;31(3):328-32. doi: 10.1002/ana.410310316. Ann Neurol. 1992. PMID: 1353343

2

A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies.

Inui K, Namba R, Ihara Y, Nobukuni K, Taniike M, Midorikawa M, Tsukamoto H, Okada S. Inui K, et al. J Neurol. 1990 Dec;237(8):491-3. doi: 10.1007/BF00314770. J Neurol. 1990. PMID: 2127425

3

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

Nishimoto J, Nanba E, Inui K, Okada S, Suzuki K. Nishimoto J, et al. Among authors: inui k. Am J Hum Genet. 1991 Sep;49(3):566-74. Am J Hum Genet. 1991. PMID: 1909089 Free PMC article.

4

Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis.

Takiyama N, Itoh K, Shimmoto M, Nishimoto J, Inui K, Sakuraba H, Suzuki Y. Takiyama N, et al. Among authors: inui k. Brain Dev. 1997 Mar;19(2):126-30. doi: 10.1016/s0387-7604(96)00494-9. Brain Dev. 1997. PMID: 9105659 Clinical Trial.

5

Uptake and metabolism of radiolabelled GM1-ganglioside in skin fibroblasts from controls and patients with GM1-gangliosidosis.

Midorikawa M, Inui K, Okada S, Yabuuchi H, Ogura K, Handa S. Midorikawa M, et al. Among authors: inui k. J Inherit Metab Dis. 1991;14(5):721-9. doi: 10.1007/BF01799941. J Inherit Metab Dis. 1991. PMID: 1779618

6

Allele frequencies of intragenic, and 5' and 3' markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy.

Tsukamoto H, Inui K, Fukushima H, Okada S. Tsukamoto H, et al. Among authors: inui k. Jpn J Hum Genet. 1996 Dec;41(4):391-7. doi: 10.1007/BF01876329. Jpn J Hum Genet. 1996. PMID: 9088109

7

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.

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. Akanuma J, et al. Among authors: inui k. Am J Med Genet. 2000 Mar 13;91(2):107-12. Am J Med Genet. 2000. PMID: 10748407

8

[Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy by PCR methods].

Tsukamoto H, Inui K, Okada S. Tsukamoto H, et al. Among authors: inui k. Nihon Rinsho. 1993 Sep;51(9):2428-34. Nihon Rinsho. 1993. PMID: 8105117 Review. Japanese.

9

Characteristics of asparagine-linked sugar chains of sphingolipid activator protein 1 purified from normal human liver and GM1 gangliosidosis (type 1) liver.

Yamashita K, Inui K, Totani K, Kochibe N, Furukawa M, Okada S. Yamashita K, et al. Among authors: inui k. Biochemistry. 1990 Mar 27;29(12):3030-9. doi: 10.1021/bi00464a020. Biochemistry. 1990. PMID: 2110822

10

Mutation analysis of a Japanese patient with fucosidosis.

Akagi M, Inui K, Nishigaki T, Muramatsu T, Kokubu C, Fu L, Fukushima H, Yanagihara I, Tsukamoto H, Kurahashi H, Okada S. Akagi M, et al. Among authors: inui k. J Hum Genet. 1999;44(5):323-6. doi: 10.1007/s100380050169. J Hum Genet. 1999. PMID: 10496076

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