翻訳と辞書 Words near each other ・ Ribonucleotide reductase ・ Ribonucleotide reductase inhibitor ・ Ribophorin ・ Riboprobe ・ Riboque ・ Ribordone ・ Riboregulator ・ Ribose ・ Ribose 1,5-bisphosphate phosphokinase ・ Ribose 1-dehydrogenase (NADP+) ・ Ribose 5-phosphate ・ Ribose isomerase ・ Ribose repressor ・ Ribose-5-phosphate adenylyltransferase ・ Ribose-5-phosphate isomerase ・ Ribose-5-phosphate isomerase deficiency ・ Ribose-5-phosphate—ammonia ligase ・ Ribose-phosphate diphosphokinase ・ Riboside ・ Ribosomal binding site ・ Ribosomal DNA ・ Ribosomal frameshift ・ Ribosomal Intergenic Spacer analysis ・ Ribosomal L28e protein family ・ Ribosomal pause ・ Ribosomal protein ・ Ribosomal protein L10 leader ・ Ribosomal protein L13 leader ・ Ribosomal protein L19 leader ・ Ribosomal protein L20 leader Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Ribose-5-phosphate isomerase deficiency ： ウィキペディア英語版 Ribose-5-phosphate isomerase deficiency Ribose-5-phosphate isomerase deficiency (RPI deficiency, (OMIM #608611 )) is a human disorder caused by mutations in the pentose phosphate pathway enzyme ribose-5-phosphate isomerase. With a single diagnosed patient, RPI deficiency is currently the rarest disease in the world.〔Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M. The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency. J Mol Med. 2010, PMID 20499043〕 == Discovery == The affected boy was born in 1984 and diagnosed by MRI as suffering from a white matter disease (leukoencephalopathy). Analysis of SPECT profiles indicated an increase in the polyols arabitol, ribitol and erithrol.〔van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol. 1999 Dec;46(6):925-8. PMID 10589548〕 This discovery later led to the identification of the disease-causing mutations, a premature stop codon and a missense mutation in the RPI gene.〔Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. PMID 14988808〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Ribose-5-phosphate isomerase deficiency」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.