Murayama K - Search Results

1

Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.

Murayama K, Shimura M, Liu Z, Okazaki Y, Ohtake A. Murayama K, et al. J Hum Genet. 2019 Feb;64(2):113-125. doi: 10.1038/s10038-018-0528-6. Epub 2018 Nov 21. J Hum Genet. 2019. PMID: 30459337 Review.

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

Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk.

Nagasaka H, Hirano K, Ohtake A, Miida T, Takatani T, Murayama K, Yorifuji T, Kobayashi K, Kanazawa M, Ogawa A, Takayanagi M. Nagasaka H, et al. Among authors: murayama k. Eur J Pediatr. 2007 Oct;166(10):1009-16. doi: 10.1007/s00431-006-0372-0. Epub 2007 Jan 6. Eur J Pediatr. 2007. PMID: 17206455

4

Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency.

Murayama K, Nagasaka H, Tsuruoka T, Omata Y, Horie H, Tregoning S, Thorburn DR, Takayanagi M, Ohtake A. Murayama K, et al. Eur J Pediatr. 2009 Mar;168(3):297-302. doi: 10.1007/s00431-008-0753-7. Epub 2008 Jun 17. Eur J Pediatr. 2009. PMID: 18560889

5

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.

Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Kaji S, et al. Among authors: murayama k. Mol Genet Metab. 2009 Aug;97(4):292-6. doi: 10.1016/j.ymgme.2009.04.014. Epub 2009 May 12. Mol Genet Metab. 2009. PMID: 19520594

6

Children's toxicology from bench to bed--Liver Injury (4): Mitochondrial respiratory chain disorder and liver disease in children.

Murayama K, Ohtake A. Murayama K, et al. J Toxicol Sci. 2009;34 Suppl 2:SP237-43. doi: 10.2131/jts.34.sp237. J Toxicol Sci. 2009. PMID: 19571475 Free article.

7

Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M. Komaki H, et al. Among authors: murayama k. Biochim Biophys Acta. 2010 Mar;1800(3):313-5. doi: 10.1016/j.bbagen.2009.07.008. Epub 2009 Jul 17. Biochim Biophys Acta. 2010. PMID: 19616603

8

Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy.

Arakawa C, Endo A, Kohira R, Fujita Y, Fuchigami T, Mugishima H, Ohtake A, Murayama K, Mori M, Miyata R, Hatai Y. Arakawa C, et al. Among authors: murayama k. Brain Dev. 2012 Feb;34(2):115-7. doi: 10.1016/j.braindev.2011.03.002. Epub 2011 Mar 26. Brain Dev. 2012. PMID: 21441007

9

Fatal case of mitochondrial DNA depletion with severe asphyxia in a newborn.

Nakano Y, Murayama K, Tsuruoka T, Aizawa M, Nagasaka H, Horie H, Ohtake A, Saitou K. Nakano Y, et al. Among authors: murayama k. Pediatr Int. 2011 Apr;53(2):240-2. doi: 10.1111/j.1442-200X.2010.03183.x. Pediatr Int. 2011. PMID: 21501307 No abstract available.

10

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Sakamoto O, Ohura T, Murayama K, Ohtake A, Harashima H, Abukawa D, Takeyama J, Haginoya K, Miyabayashi S, Kure S. Sakamoto O, et al. Among authors: murayama k. Pediatr Int. 2011 Dec;53(6):921-5. doi: 10.1111/j.1442-200X.2011.03412.x. Pediatr Int. 2011. PMID: 21639866

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