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3. Genetic defects in E3 component of alpha-keto acid dehydrogenase complexes. Patel MS; Hong YS; Kerr DS Methods Enzymol; 2000; 324():453-64. PubMed ID: 10989452 [No Abstract] [Full Text] [Related]
4. Maple syrup urine disease 1954 to 1993. Peinemann F; Danner DJ J Inherit Metab Dis; 1994; 17(1):3-15. PubMed ID: 8051937 [No Abstract] [Full Text] [Related]
5. Molecular genetic basis for inherited human disorders of branched-chain alpha-keto acid dehydrogenase complex. Danner DJ; Litwer S; Herring WJ; Elsas LJ Ann N Y Acad Sci; 1989; 573():369-77. PubMed ID: 2699404 [No Abstract] [Full Text] [Related]
6. Maple syrup urine disease: clinical and biochemical significance of gene analysis. Nobukuni Y; Mitsubuchi H; Akaboshi I; Indo Y; Endo F; Matsuda I J Inherit Metab Dis; 1991; 14(5):787-92. PubMed ID: 1664011 [No Abstract] [Full Text] [Related]
7. Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease. Jinno Y; Akaboshi I; Matsuda I Hum Genet; 1984; 68(1):54-6. PubMed ID: 6500555 [TBL] [Abstract][Full Text] [Related]
8. Enzyme assays with mutant cell lines of maple syrup urine disease. Chuang DT; Cox RP Methods Enzymol; 1988; 166():135-46. PubMed ID: 3071697 [No Abstract] [Full Text] [Related]
10. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. Harris RA; Zhang B; Goodwin GW; Kuntz MJ; Shimomura Y; Rougraff P; Dexter P; Zhao Y; Gibson R; Crabb DW Adv Enzyme Regul; 1990; 30():245-63. PubMed ID: 2403034 [TBL] [Abstract][Full Text] [Related]
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12. Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences. Chuang JL; Cox RP; Chuang DT Am J Hum Genet; 1996 Jun; 58(6):1373-7. PubMed ID: 8651316 [No Abstract] [Full Text] [Related]
13. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Edelmann L; Wasserstein MP; Kornreich R; Sansaricq C; Snyderman SE; Diaz GA Am J Hum Genet; 2001 Oct; 69(4):863-8. PubMed ID: 11509994 [TBL] [Abstract][Full Text] [Related]
14. Targeting E3 component of alpha-keto acid dehydrogenase complexes. Johnson MT; Yang HS; Patel MS Methods Enzymol; 2000; 324():465-76. PubMed ID: 10989453 [No Abstract] [Full Text] [Related]
15. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. Chuang JL; Davie JR; Chinsky JM; Wynn RM; Cox RP; Chuang DT J Clin Invest; 1995 Mar; 95(3):954-63. PubMed ID: 7883996 [TBL] [Abstract][Full Text] [Related]
16. Gene preference in maple syrup urine disease. Nellis MM; Danner DJ Am J Hum Genet; 2001 Jan; 68(1):232-7. PubMed ID: 11112664 [TBL] [Abstract][Full Text] [Related]
17. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online. Chinsky J; Appel M; Almashanu S; Costeas P; Ambulos N; Carmi R Hum Mutat; 1998; 12(2):136. PubMed ID: 10694918 [TBL] [Abstract][Full Text] [Related]
18. Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease. Wynn RM; Davie JR; Chuang JL; Cote CD; Chuang DT J Biol Chem; 1998 May; 273(21):13110-8. PubMed ID: 9582350 [TBL] [Abstract][Full Text] [Related]
19. Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves. Zhang B; Healy PJ; Zhao Y; Crabb DW; Harris RA J Biol Chem; 1990 Feb; 265(5):2425-7. PubMed ID: 2303405 [TBL] [Abstract][Full Text] [Related]
20. Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex. Fisher CW; Chuang JL; Griffin TA; Lau KS; Cox RP; Chuang DT J Biol Chem; 1989 Feb; 264(6):3448-53. PubMed ID: 2914958 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]