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5. Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity. Yoshida I; Sweetman L; Nyhan WL Pediatr Res; 1986 Feb; 20(2):169-74. PubMed ID: 3080729 [TBL] [Abstract][Full Text] [Related]
6. Oral L-alloisoleucine loading studies in healthy subjects and in patients with maple syrup urine disease. Schadewaldt P; Dalle-Feste C; Langenbeck U; Wendel U Pediatr Res; 1991 Nov; 30(5):430-4. PubMed ID: 1754297 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512 [TBL] [Abstract][Full Text] [Related]
10. Domino liver transplantation in maple syrup urine disease. Khanna A; Hart M; Nyhan WL; Hassanein T; Panyard-Davis J; Barshop BA Liver Transpl; 2006 May; 12(5):876-82. PubMed ID: 16628687 [TBL] [Abstract][Full Text] [Related]
11. Enzymatic method for branched chain alpha-ketoacid determination: application to rapid analysis of urine and plasma samples from maple syrup urine disease patients. Burgos C; Civallero GE; de Kremer RD; Gerez de Burgos NM; Blanco A Acta Physiol Pharmacol Ther Latinoam; 1999; 49(2):109-17. PubMed ID: 10797848 [TBL] [Abstract][Full Text] [Related]
12. Effect of insulin on leucine kinetics in maple syrup urine disease. Collins JE; Umpleby AM; Boroujerdi MA; Leonard JV; Sonksen PH Pediatr Res; 1987 Jan; 21(1):10-3. PubMed ID: 3540829 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine. Riazi R; Rafii M; Clarke JT; Wykes LJ; Ball RO; Pencharz PB Am J Physiol Endocrinol Metab; 2004 Jul; 287(1):E142-9. PubMed ID: 14970005 [TBL] [Abstract][Full Text] [Related]
19. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. Nobukuni Y; Mitsubuchi H; Akaboshi I; Indo Y; Endo F; Yoshioka A; Matsuda I J Clin Invest; 1991 May; 87(5):1862-6. PubMed ID: 2022752 [TBL] [Abstract][Full Text] [Related]
20. Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. Bodner-Leidecker A; Wendel U; Saudubray JM; Schadewaldt P J Inherit Metab Dis; 2000 Dec; 23(8):805-18. PubMed ID: 11196106 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]