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28. Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease. Healy PJ; Dennis JA; Windsor PA; Pierce KD; Schofield PA Aust Vet J; 2002 Nov; 80(11):695-7. PubMed ID: 12465829 [TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. Zhang B; Edenberg HJ; Crabb DW; Harris RA J Clin Invest; 1989 Apr; 83(4):1425-9. PubMed ID: 2703538 [TBL] [Abstract][Full Text] [Related]
32. Molecular genetic characterization of maple syrup urine disease in European families. Peinemann F; Wendel U; Danner DJ Biochem Med Metab Biol; 1993 Dec; 50(3):338-45. PubMed ID: 8123297 [TBL] [Abstract][Full Text] [Related]
33. Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis. Potashnik R; Carmi R; Sofer S; Bashan N; Abeliovich D Isr J Med Sci; 1987 Aug; 23(8):886-9. PubMed ID: 3679791 [TBL] [Abstract][Full Text] [Related]
34. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. Zhang B; Zhao Y; Harris RA; Crabb DW Mol Biol Med; 1991 Feb; 8(1):39-47. PubMed ID: 1943689 [TBL] [Abstract][Full Text] [Related]
35. Ultrastructural findings in maple syrup urine disease in Poll Hereford calves. Harper PA; Healy PJ; Dennis JA Acta Neuropathol; 1986; 71(3-4):316-20. PubMed ID: 3799144 [TBL] [Abstract][Full Text] [Related]
36. Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer. Koyata H; Cox RP; Chuang DT Biochem J; 1993 Nov; 295 ( Pt 3)(Pt 3):635-9. PubMed ID: 8240269 [TBL] [Abstract][Full Text] [Related]
37. Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Felber SR; Sperl W; Chemelli A; Murr C; Wendel U Ann Neurol; 1993 Apr; 33(4):396-401. PubMed ID: 8489211 [TBL] [Abstract][Full Text] [Related]
38. Interrelation between the metabolism of L-isoleucine and L-allo-isoleucine in patients with maple syrup urine disease. Wendel U; Langenbeck U; Seakins JW Pediatr Res; 1989 Jan; 25(1):11-4. PubMed ID: 2919111 [TBL] [Abstract][Full Text] [Related]
39. The role of thiamin in maple syrup urine disease. Elsas LJ; Danner DJ Ann N Y Acad Sci; 1982; 378():404-21. PubMed ID: 7044230 [No Abstract] [Full Text] [Related]
40. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex. Chuang DT; Fisher CW; Lau KS; Griffin TA; Wynn RM; Cox RP Mol Biol Med; 1991 Feb; 8(1):49-63. PubMed ID: 1943690 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]