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• W135097145 abstract "Journal of Inherited Metabolic DiseaseVolume 20, Issue 6 p. 828-830 Article Absence of common trifunctional protein mutation in patients with Alpers disease Z. Yang, Z. Yang University Department of Surgery, Austin Hospital, Melbourne, Victoria, AustraliaSearch for more papers by this authorR. Youil, R. Youil Murdoch Institute, Victoria, AustraliaSearch for more papers by this authorD. Thorburn, D. Thorburn Murdoch Institute, Victoria, AustraliaSearch for more papers by this authorC. W. Chow, C. W. Chow Department of Pathology, Royal Children's Hospital, Victoria, AustraliaSearch for more papers by this authorR. G. H. Cotton, R. G. H. Cotton Mutation Research Centre, St. Vincent's Hospital, Melbourne, Victoria, AustraliaSearch for more papers by this authorG. S. Baldwin, G. S. Baldwin University Department of Surgery, Austin Hospital, Melbourne, Victoria, Australia Department of Surgery, A & RMC, Locked Bag 25, Austin Campus, Heidelberg, Victoria, 3084 AustraliaSearch for more papers by this author Z. Yang, Z. Yang University Department of Surgery, Austin Hospital, Melbourne, Victoria, AustraliaSearch for more papers by this authorR. Youil, R. Youil Murdoch Institute, Victoria, AustraliaSearch for more papers by this authorD. Thorburn, D. Thorburn Murdoch Institute, Victoria, AustraliaSearch for more papers by this authorC. W. Chow, C. W. Chow Department of Pathology, Royal Children's Hospital, Victoria, AustraliaSearch for more papers by this authorR. G. H. Cotton, R. G. H. Cotton Mutation Research Centre, St. Vincent's Hospital, Melbourne, Victoria, AustraliaSearch for more papers by this authorG. S. Baldwin, G. S. Baldwin University Department of Surgery, Austin Hospital, Melbourne, Victoria, Australia Department of Surgery, A & RMC, Locked Bag 25, Austin Campus, Heidelberg, Victoria, 3084 AustraliaSearch for more papers by this author First published: 01 November 1997 https://doi.org/10.1023/A:1005332120740Citations: 1AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Harding BN, Alsanjari N, Smith SJM et al (1995) Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults. J Neurol Neurosurg Psychiatry, 58: 320–325. 2Huttenlocher PR, Solitare GR, Adams G (1976) Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol, 33: 186–192. 3Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta, 1215: 347–350. 4Manning NJ, Olpin SE, Pollitt RJ, Webley J (1990) Comparison of [9,10-3H]palmitic and [9,10-3H]-myristic acids for the detection of fatty acid oxidation defects in intact cultured fibroblasts. J Inher Metab Dis, 13: 58–68. 5Youil R, Kemper BW, Cotton RGH (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc Natl Acad Sci USA, 92: 87–91. Citing Literature Volume20, Issue6November 1997Pages 828-830 ReferencesRelatedInformation" @default.
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• W135097145 title "Absence of common trifunctional protein mutation in patients with Alpers disease" @default.
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