Iinuma K - Search Results

1

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: iinuma k. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

2

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K. Sakamoto O, et al. Among authors: iinuma k. J Hum Genet. 2002;47(5):229-31. doi: 10.1007/s100380200030. J Hum Genet. 2002. PMID: 12032589

3

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T. Yang X, et al. Among authors: iinuma k. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002. Mol Genet Metab. 2004. PMID: 15308131

4

Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

Katsushima F, Oliveriusova J, Sakamoto O, Ohura T, Kondo Y, Iinuma K, Kraus E, Stouracova R, Kraus JP. Katsushima F, et al. Among authors: iinuma k. Mol Genet Metab. 2006 Apr;87(4):323-8. doi: 10.1016/j.ymgme.2005.09.013. Epub 2005 Nov 22. Mol Genet Metab. 2006. PMID: 16307898

5

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.

Ohura T, Kobayashi K, Abukawa D, Tazawa Y, Aikawa J, Sakamoto O, Saheki T, Iinuma K. Ohura T, et al. Among authors: iinuma k. Eur J Pediatr. 2003 May;162(5):317-22. doi: 10.1007/s00431-003-1171-5. Epub 2003 Feb 27. Eur J Pediatr. 2003. PMID: 12692712

6

Glycine cleavage system in neurogenic regions.

Ichinohe A, Kure S, Mikawa S, Ueki T, Kojima K, Fujiwara K, Iinuma K, Matsubara Y, Sato K. Ichinohe A, et al. Among authors: iinuma k. Eur J Neurosci. 2004 May;19(9):2365-70. doi: 10.1111/j.0953-816X.2004.03345.x. Eur J Neurosci. 2004. PMID: 15128390 Free article.

7

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.

Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T. Tazawa Y, et al. Among authors: iinuma k. Mol Genet Metab. 2004 Nov;83(3):213-9. doi: 10.1016/j.ymgme.2004.06.018. Mol Genet Metab. 2004. PMID: 15542392

8

A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency.

Tazawa Y, Abukawa D, Sakamoto O, Nagata I, Murakami J, Iizuka T, Okamoto M, Kimura A, Kurosawa T, Iinuma K, Kobayashi K, Saheki T, Ohura T. Tazawa Y, et al. Among authors: iinuma k. Hepatol Res. 2005 Mar;31(3):168-71. doi: 10.1016/j.hepres.2005.01.001. Hepatol Res. 2005. PMID: 15777702

9

An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis.

Sakamoto O, Abukawa D, Takeyama J, Arai N, Nagano M, Hattori H, Egashira T, Sakai N, Yamashita S, Iinuma K, Ohura T. Sakamoto O, et al. Among authors: iinuma k. Eur J Pediatr. 2006 Jan;165(1):68-70. doi: 10.1007/s00431-005-1751-7. Epub 2005 Sep 6. Eur J Pediatr. 2006. PMID: 16143868 No abstract available.

10

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

Hino-Fukuyo N, Kikuchi A, Yokoyama H, Iinuma K, Hirose M, Haginoya K, Niihori T, Nakayama K, Aoki Y, Kure S. Hino-Fukuyo N, et al. Among authors: iinuma k. Seizure. 2017 Aug;50:144-146. doi: 10.1016/j.seizure.2017.06.018. Epub 2017 Jun 20. Seizure. 2017. PMID: 28654857 Free article.

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