Murayama K - Search Results

1

Food Preferences of Patients with Citrin Deficiency.

Okamoto M, Okano Y, Okano M, Yazaki M, Inui A, Ohura T, Murayama K, Watanabe Y, Tokuhara D, Takeshima Y. Okamoto M, et al. Among authors: murayama k. Nutrients. 2021 Sep 6;13(9):3123. doi: 10.3390/nu13093123. Nutrients. 2021. PMID: 34579000 Free PMC article.

2

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. Okano Y, et al. Among authors: murayama k. Am J Hum Genet. 2001 Apr;68(4):1036-42. doi: 10.1086/319512. Epub 2001 Feb 23. Am J Hum Genet. 2001. PMID: 11231902 Free PMC article.

3

Nitric oxide synthesis in ornithine transcarbamylase deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect.

Nagasaka H, Komatsu H, Ohura T, Sogo T, Inui A, Yorifuji T, Murayama K, Takayanagi M, Kikuta H, Kobayashi K. Nagasaka H, et al. Among authors: murayama k. J Pediatr. 2004 Aug;145(2):259-62. doi: 10.1016/j.jpeds.2004.05.033. J Pediatr. 2004. PMID: 15289781

4

Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.

Nagasaka H, Tsukahara H, Yorifuji T, Miida T, Murayama K, Tsuruoka T, Takatani T, Kanazawa M, Kobayashi K, Okano Y, Takayanagi M. Nagasaka H, et al. Among authors: murayama k. Metabolism. 2009 Mar;58(3):278-82. doi: 10.1016/j.metabol.2008.09.025. Metabolism. 2009. PMID: 19217439

5

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.

Hashimura Y, Morioka I, Hisamatsu C, Yokoyama N, Taniguchi-Ikeda M, Yokozaki H, Murayama K, Ohtake A, Itoh K, Takeshima Y, Iijima K. Hashimura Y, et al. Among authors: murayama k. Pediatr Int. 2016 Jul;58(7):651-5. doi: 10.1111/ped.12907. Epub 2016 Jun 6. Pediatr Int. 2016. PMID: 27264907

6

Zinc monotherapy for young children with presymptomatic Wilson disease: A multicenter study in Japan.

Eda K, Mizuochi T, Iwama I, Inui A, Etani Y, Araki M, Hara S, Kumagai H, Hagiwara SI, Murayama K, Murakami J, Shimizu N, Kodama H, Yasuda R, Takaki Y, Yamashita Y. Eda K, et al. Among authors: murayama k. J Gastroenterol Hepatol. 2018 Jan;33(1):264-269. doi: 10.1111/jgh.13812. J Gastroenterol Hepatol. 2018. PMID: 28452067

7

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K, Nakamura K, Fujiki R, Ohara O, Sasai H, Fukao T, Takeshima Y. Lee T, et al. Among authors: murayama k. Hum Genome Var. 2018 Aug 16;5:22. doi: 10.1038/s41439-018-0022-x. eCollection 2018. Hum Genome Var. 2018. PMID: 30131866 Free PMC article.

8

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Ichimoto K, Fujisawa T, Shimura M, Fushimi T, Tajika M, Matsunaga A, Ogawa-Tominaga M, Akiyama N, Naruke Y, Horie H, Fukuda T, Sugie H, Inui A, Murayama K. Ichimoto K, et al. Among authors: murayama k. Mol Genet Metab Rep. 2020 May 18;24:100601. doi: 10.1016/j.ymgmr.2020.100601. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32455116 Free PMC article.

9

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.

Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Among authors: murayama k. Orphanet J Rare Dis. 2020 Jul 24;15(1):169. doi: 10.1186/s13023-020-01441-5. Orphanet J Rare Dis. 2020. PMID: 32703289 Free PMC article.

10

Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.

Lee T, Yoshii K, Yoshida S, Suga T, Nakamura K, Sasai H, Murayama K, Kobayashi H, Hasegawa Y, Takeshima Y. Lee T, et al. Among authors: murayama k. Clin Chim Acta. 2020 Nov;510:633-637. doi: 10.1016/j.cca.2020.08.027. Epub 2020 Aug 20. Clin Chim Acta. 2020. PMID: 32828733

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