pentosuria

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ペントース尿症

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/01/13 03:20:44」(JST)

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英文文献

  • Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
  • Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG.SourceDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195-7720, USA.
  • Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31.
  • Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosur
  • PMID 22042873
  • Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.
  • Scriver CR.SourceDepartment of Human Genetics, McGill University, Montreal, Canada. charles.scriver@mcgill.ca
  • Journal of inherited metabolic disease.J Inherit Metab Dis.2008 Oct;31(5):580-98. doi: 10.1007/s10545-008-0984-9. Epub 2008 Oct 12.
  • Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics
  • PMID 18850300
  • Legacies of Garrod's brilliance. One hundred years--and counting.
  • Rosenberg LE.SourceDepartment of Molecular Biology, Princeton University, Princeton, NJ 08544, USA. lrosenbe@Princeton.EDU
  • Journal of inherited metabolic disease.J Inherit Metab Dis.2008 Oct;31(5):574-9. doi: 10.1007/s10545-008-0985-8. Epub 2008 Oct 5.
  • One hundred years ago--in 1908--Archibald Garrod delivered his four Croonian Lectures. In these formerly forgotten, but now famous, dissertations, Garrod first used the expression, 'inborn errors of metabolism', to describe four rare disorders: albinism, alkaptonuria, cystinuria, and pentosuria. Thi
  • PMID 18836847

和文文献

  • 進行性筋ジストロフイー症の尿中に排泄される五炭糖と燐を含んだ物質について
  • 阿部 英治
  • 医療 22(12), 1379-1385, 1968
  • … the excretion of compounds containing pentowe and phosphor rus into the urines of patients with progressive muscular dystrophy (PMD) in 1949, several papers were published on this problem, but no definite conclusion has been obtained whether the pentosuria represents a characteristic of PMD.I was able to identify that 6 out of 70 PMD patients excreted a substance of nucleotide nature in urine by employing a conventional column chromatographic technique with Dowex resin instead of applying the osazon test which had been used by the previous …
  • NAID 130004311016
  • BIOCHEMICAL STUDIES ON d-RIBOSE, WITH SPECIAL REFERENCE TO THE MECHANISM OF ABSORPTION OF SUGARS FROM INTESTINAL TRACT
  • NAITÔ YOSINORI
  • The Journal of Biochemistry 36, 131-161, 1944
  • … The minimum quantity of ribose, which caused pentosuria upon the intravenous injection or the oral administration to rabbits, was 250mg. …
  • NAID 130003535667

関連リンク

pentosuria pen·to·su·ri·a (pěn'tō-sur'ē-ə, -syur'-) n. The excretion of one or more pentoses in the urine.
pentosuria /pen·tos·uria/ (pen″to-su´re-ah) excretion of pentoses in the urine. alimentary pentosuria that occurring as a normal consequence of excessive ingestion of some fruits or their juices. essential pentosuria a benign ...

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リンク元ペントース尿症

ペントース尿症」

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pentosuria
五炭糖尿症グルクロン酸経路、バイアルペントース(五炭糖)尿試験


  • キシロース還元酵素の先天異常




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