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REFERENCES

  • 1
    Chuang DT, Shih VE, Scriver CR. Maple syrup urine disease. In: ScriverCR, BeaudetAL, SlyWS, ValleD, eds. The Metabolic and Molecular Bases of Inherited Disease, vol 2. New York: McGraw-Hill, 2002: 19712005.
  • 2
    Strauss KA, Morton DH. Branched-chain ketoacyl dehydrogenase deficiency: maple syrup disease. Curr Treat Options Neurol 2003; 5: 329341.
  • 3
    Bellary S, Hassanein T, Van Thiel DH. Liver transplantation for Wilson's disease. J Hepatol 1995; 23: 373381.
  • 4
    Blanchard H, Bensoussan AL, Weber A, Gauthier M, Lacroix J, Charest J, et al. Pediatric liver transplantation: the Montreal experience. J Pediatr Surg 1989; 24: 10091012.
  • 5
    Todo S, Starzl TE, Tzakis A, Benkov KJ, Kalousek F, Saheki T, et al. Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology 1992; 15: 419422.
  • 6
    Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka K. Living-related liver transplantation for neonatal-onset propionic acidemia. J Pediatr 2000; 137: 572574.
  • 7
    van't Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard JV. Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr 1998; 132: 10431044.
  • 8
    Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr 2002; 140: 261263.
  • 9
    Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr 2002; 161: 377379.
  • 10
    Netter JC, Cossarizza G, Narcy C, Hubert P, Ogier H, Revillon Y, et al. Mid-term outcome of 2 cases with maple syrup urine disease: role of liver transplantation in the treatment. Arch Pediatr 1994; 1: 730734.
  • 11
    Wendel U, Saudubray JM, Bodner A, Schadewaldt P. Liver transplantation in maple syrup urine disease. Eur J Pediatr 1999; 158(Suppl 2): S60S64.
  • 12
    Organ Procurement and Transplantation Network. http://www.optn.org/, 2004.
  • 13
    Mor E, Klintmalm GB, Gonwa TA, Solomon H, Holman MJ, Gibbs JF, et al. The use of marginal donors for liver transplantation. A retrospective study of 365 liver donors. Transplantation 1992; 53: 383386.
  • 14
    Yacoub MH, Banner NR, Khaghani A, Fitzgerald M, Madden B, Tsang V, et al. Heart-lung transplantation for cystic fibrosis and subsequent domino heart transplantation. J Heart Transplant 1990; 9: 459466; discussion 466–457.
  • 15
    Azoulay D, Samuel D, Castaing D, Adam R, Adams D, Said G, Bismuth H. Domino liver transplants for metabolic disorders: experience with familial amyloidotic polyneuropathy. J Am Coll Surg 1999; 189: 584593.
  • 16
    Terazaki H, Ando Y, Nakamura M, et al. Variant transthyretin in blood circulation can transverse the blood-cerebrospinal barrier: qualitative analyses of transthyretin metabolism in sequential liver transplantation. Transplantation 2001; 72: 296299.
  • 17
    Donckier V, El Nakadi I, Closset J, Ickx B, Louis H, Le Moine O, et al. Domino hepatic transplantation using the liver from a patient with primary hyperoxaluria. Transplantation 2001; 71: 13461348.
  • 18
    Popescu I, Simionescu M, Tulbure D, Sima A, Catana C, Niculescu L, et al. Homozygous familial hypercholesterolemia: specific indication for domino liver transplantation. Transplantation 2003; 76: 13451350.
  • 19
    Kamath PS, Wiesner RH, Malinchoc M, Kremers W, Therneau TM, Kosberg CL, et al. A model to predict survival in patients with end-stage liver disease. Hepatology 2001; 33: 464470.
  • 20
    Elsas LJ, Ellerine NP, Klein PD. Practical methods to estimate whole body leucine oxidation in maple syrup urine disease. Pediatr Res 1993; 33: 445451.
  • 21
    Bodner-Leidecker A, Wendel U, Saudubray JM, Schadewaldt P. Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. J Inherit Metab Dis 2000; 23: 805818.
  • 22
    Schadewaldt P, Bodner-Leidecker A, Hammen HW, Wendel U. Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease. Pediatr Res 2001; 49: 627635.
  • 23
    Hoerr RA, Yu YM, Wagner DA, Burke JF, Young VR. Recovery of 13C in breath from NaH13CO3 infused by gut and vein: effect of feeding. Am J Physiol 1989; 257(Pt 1): E426E438.
  • 24
    Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L. Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. 1989; 35: 587.
  • 25
    Pacheco-Moreira LF, de Oliveira ME, Balbi E, et al. A new technical option for domino liver transplantation. Liver Transpl 2003; 9: 632633.
  • 26
    Kaplan P, Mazur AM, Smith R, et al. Transplantation for maple syrup urine disease (MSUD) and methylmalonic acidopathy (MMA). J Inherit Metab Dis 1997; 20(Suppl 1): 37.
  • 27
    Merinero B, Perez-Cerda C, Sanz P, Font LM, Garcia MJ, Martinez Pardo M, et al. Liver transplantation (LT) in a Spanish MSUD patient. 32nd Annual Symposium, Society for the Study of Inborn Errors of Metabolism, 1994, Edinburgh. 64.
  • 28
    Suryawan A, Hawes JW, Harris RA, Shimomura Y, Jenkins AE, Hutson SM. A molecular model of human branched-chain amino acid metabolism. Am J Clin Nutr 1998; 68: 7281.
  • 29
    Thompson GN, Bresson JL, Pacy PJ, Bonnefont JP, Walter JH, Leonard JV, et al. Protein and leucine metabolism in maple syrup urine disease. Am J Physiol 1990; 258 (Pt 1): E654E660.
  • 30
    Thompson GN, Walter JH, Leonard JV, Halliday D. In vivo enzyme activity in inborn errors of metabolism. Metabolism 1990; 39: 799807.
  • 31
    Thompson GN, Francis DE, Halliday D. Acute illness in maple syrup urine disease: dynamics of protein metabolism and implications for management. J Pediatr 1991; 119(Pt 1): 3541.
  • 32
    Schadewaldt P, Wendel U. Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr 1997; 156(Suppl 1): S62S66.
  • 33
    Schadewaldt P, Bodner A, Brosicke H, Hammen HW, Wendel U. Assessment of whole body L-leucine oxidation by noninvasive L-[1-13C]leucine breath tests: a reappraisal in patients with maple syrup urine disease, obligate heterozygotes, and healthy subjects. Pediatr Res 1998; 43: 592600.
  • 34
    Luzi L, Regalia E, Pulvirenti A, Piceni Sereni L, Spessot M, Romito R, et al. Post-absorptive and insulin-mediated muscle protein metabolism in liver-transplanted patients. Acta Diabetol 2002; 39: 203208.