-
1
-
-
0002977005
-
Maple syrup urine disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Chuang DT, Shih VE, Scriver CR. Maple syrup urine disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, vol 2. New York: McGraw-Hill, 2002:1971-2005.
-
(2002)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 1971-2005
-
-
Chuang, D.T.1
Shih, V.E.2
Scriver, C.R.3
-
2
-
-
0041488073
-
Branched-chain ketoacyl dehydrogenase deficiency: Maple syrup disease
-
Strauss KA, Morton DH. Branched-chain ketoacyl dehydrogenase deficiency: maple syrup disease. Curr Treat Options Neurol 2003;5:329-341.
-
(2003)
Curr Treat Options Neurol
, vol.5
, pp. 329-341
-
-
Strauss, K.A.1
Morton, D.H.2
-
4
-
-
0024453738
-
Pediatric liver transplantation: The Montreal experience
-
Blanchard H, Bensoussan AL, Weber A, Gauthier M, Lacroix J, Charest J, et al. Pediatric liver transplantation: the Montreal experience. J Pediatr Surg 1989;24:1009-1012.
-
(1989)
J Pediatr Surg
, vol.24
, pp. 1009-1012
-
-
Blanchard, H.1
Bensoussan, A.L.2
Weber, A.3
Gauthier, M.4
Lacroix, J.5
Charest, J.6
-
5
-
-
0026597705
-
Orthotopic liver transplantation for urea cycle enzyme deficiency
-
Todo S, Starzl TE, Tzakis A, Benkov KJ, Kalousek F, Saheki T, et al. Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology 1992;15:419-422.
-
(1992)
Hepatology
, vol.15
, pp. 419-422
-
-
Todo, S.1
Starzl, T.E.2
Tzakis, A.3
Benkov, K.J.4
Kalousek, F.5
Saheki, T.6
-
6
-
-
0033765082
-
Living-related liver transplantation for neonatal-onset propionic acidemia
-
Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka K. Living-related liver transplantation for neonatal-onset propionic acidemia. J Pediatr 2000;137:572-574.
-
(2000)
J Pediatr
, vol.137
, pp. 572-574
-
-
Yorifuji, T.1
Muroi, J.2
Uematsu, A.3
Nakahata, T.4
Egawa, H.5
Tanaka, K.6
-
7
-
-
0031814736
-
Combined liver-kidney transplantation in methylmalonic acidemia
-
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;132:1043-1044.
-
(1998)
J Pediatr
, vol.132
, pp. 1043-1044
-
-
van't Hoff, W.G.1
Dixon, M.2
Taylor, J.3
Mistry, P.4
Rolles, K.5
Rees, L.6
Leonard, J.V.7
-
8
-
-
0036185881
-
Metabolic stroke in methylmalonic acidemia five years after liver transplantation
-
Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr 2002;140:261-263.
-
(2002)
J Pediatr
, vol.140
, pp. 261-263
-
-
Chakrapani, A.1
Sivakumar, P.2
McKiernan, P.J.3
Leonard, J.V.4
-
9
-
-
0036305659
-
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
-
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: 377-379.
-
(2002)
Eur J Pediatr
, vol.161
, pp. 377-379
-
-
Nyhan, W.L.1
Gargus, J.J.2
Boyle, K.3
Selby, R.4
Koch, R.5
-
10
-
-
0028065296
-
Mid-term outcome of 2 cases with maple syrup urine disease: Role of liver transplantation in the treatment
-
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;1:730-734.
-
(1994)
Arch Pediatr
, vol.1
, pp. 730-734
-
-
Netter, J.C.1
Cossarizza, G.2
Narcy, C.3
Hubert, P.4
Ogier, H.5
Revillon, Y.6
-
12
-
-
33646464637
-
-
Organ Procurement and Transplantation Network
-
Organ Procurement and Transplantation Network. http://www.optn.org/, 2004.
-
(2004)
-
-
-
13
-
-
0026521365
-
The use of marginal donors for liver transplantation. A retrospective study of 365 liver donors
-
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;53:383-386.
-
(1992)
Transplantation
, vol.53
, pp. 383-386
-
-
Mor, E.1
Klintmalm, G.B.2
Gonwa, T.A.3
Solomon, H.4
Holman, M.J.5
Gibbs, J.F.6
-
14
-
-
0025076829
-
Heart-lung transplantation for cystic fibrosis and subsequent domino heart transplantation
-
discussion 466-457
-
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;9:459-466; discussion 466-457.
-
(1990)
J Heart Transplant
, vol.9
, pp. 459-466
-
-
Yacoub, M.H.1
Banner, N.R.2
Khaghani, A.3
Fitzgerald, M.4
Madden, B.5
Tsang, V.6
-
15
-
-
0032752837
-
Domino liver transplants for metabolic disorders: Experience with familial amyloidotic polyneuropathy
-
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;189:584-593.
-
(1999)
J Am Coll Surg
, vol.189
, pp. 584-593
-
-
Azoulay, D.1
Samuel, D.2
Castaing, D.3
Adam, R.4
Adams, D.5
Said, G.6
Bismuth, H.7
-
16
-
-
0034902745
-
Variant transthyretin in blood circulation can transverse the blood-cerebrospinal barrier: Qualitative analyses of transthyretin metabolism in sequential liver transplantation
-
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;72:296-299.
-
(2001)
Transplantation
, vol.72
, pp. 296-299
-
-
Terazaki, H.1
Ando, Y.2
Nakamura, M.3
-
17
-
-
0035872735
-
Domino hepatic transplantation using the liver from a patient with primary hyperoxaluria
-
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;71:1346-1348.
-
(2001)
Transplantation
, vol.71
, pp. 1346-1348
-
-
Donckier, V.1
El Nakadi, I.2
Closset, J.3
Ickx, B.4
Louis, H.5
Le Moine, O.6
-
18
-
-
0242660150
-
Homozygous familial hypercholesterolemia: Specific indication for domino liver transplantation
-
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;76:1345-1350.
-
(2003)
Transplantation
, vol.76
, pp. 1345-1350
-
-
Popescu, I.1
Simionescu, M.2
Tulbure, D.3
Sima, A.4
Catana, C.5
Niculescu, L.6
-
19
-
-
0035146422
-
A model to predict survival in patients with end-stage liver disease
-
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: 464-470.
-
(2001)
Hepatology
, vol.33
, pp. 464-470
-
-
Kamath, P.S.1
Wiesner, R.H.2
Malinchoc, M.3
Kremers, W.4
Therneau, T.M.5
Kosberg, C.L.6
-
20
-
-
0027286639
-
Practical methods to estimate whole body leucine oxidation in maple syrup urine disease
-
Elsas LJ, Ellerine NP, Klein PD. Practical methods to estimate whole body leucine oxidation in maple syrup urine disease. Pediatr Res 1993;33:445-451.
-
(1993)
Pediatr Res
, vol.33
, pp. 445-451
-
-
Elsas, L.J.1
Ellerine, N.P.2
Klein, P.D.3
-
21
-
-
0034502503
-
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. Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. J Inherit Metab Dis 2000;23:805-818.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 805-818
-
-
Bodner-Leidecker, A.1
Wendel, U.2
Saudubray, J.M.3
Schadewaldt, P.4
-
22
-
-
0035035189
-
Whole-body L-leucine oxidation in patients with variant form of maple syrup urine disease
-
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;49:627-635.
-
(2001)
Pediatr Res
, vol.49
, pp. 627-635
-
-
Schadewaldt, P.1
Bodner-Leidecker, A.2
Hammen, H.W.3
Wendel, U.4
-
23
-
-
0024443177
-
Recovery of 13C in breath from NaH13CO3 infused by gut and vein: Effect of feeding
-
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): E426-E438.
-
(1989)
Am J Physiol
, vol.257
, Issue.PART 1
-
-
Hoerr, R.A.1
Yu, Y.M.2
Wagner, D.A.3
Burke, J.F.4
Young, V.R.5
-
24
-
-
0024601727
-
Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis
-
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.
-
(1989)
, vol.35
, pp. 587
-
-
Hoffmann, G.1
Aramaki, S.2
Blum-Hoffmann, E.3
Nyhan, W.L.4
Sweetman, L.5
-
26
-
-
0001822605
-
Transplantation for maple syrup urine disease (MSUD) and methylmalonic acidopathy (MMA)
-
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.
-
(1997)
J Inherit Metab Dis
, vol.20
, Issue.SUPPL. 1
, pp. 37
-
-
Kaplan, P.1
Mazur, A.M.2
Smith, R.3
-
27
-
-
0006472097
-
Liver transplantation (LT) in a Spanish MSUD patient
-
32nd Annual Symposium, Society for the Study of Inborn Errors of Metabolism, Edinburgh
-
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.
-
(1994)
, pp. 64
-
-
Merinero, B.1
Perez-Cerda, C.2
Sanz, P.3
Font, L.M.4
Garcia, M.J.5
Martinez Pardo, M.6
-
28
-
-
0031750339
-
A molecular model of human branched-chain amino acid metabolism
-
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;68:72-81.
-
(1998)
Am J Clin Nutr
, vol.68
, pp. 72-81
-
-
Suryawan, A.1
Hawes, J.W.2
Harris, R.A.3
Shimomura, Y.4
Jenkins, A.E.5
Hutson, S.M.6
-
29
-
-
0025267412
-
Protein and leucine metabolism in maple syrup urine disease
-
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):E654-E660.
-
(1990)
Am J Physiol
, vol.258
, Issue.PART 1
-
-
Thompson, G.N.1
Bresson, J.L.2
Pacy, P.J.3
Bonnefont, J.P.4
Walter, J.H.5
Leonard, J.V.6
-
31
-
-
0025760904
-
Acute illness in maple syrup urine disease: Dynamics of protein metabolism and implications for management
-
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):35-41.
-
(1991)
J Pediatr
, vol.119
, Issue.PART 1
, pp. 35-41
-
-
Thompson, G.N.1
Francis, D.E.2
Halliday, D.3
-
32
-
-
31344482641
-
Metabolism of branched-chain amino acids in maple syrup urine disease
-
Schadewaldt P, Wendel U. Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr 1997;156(Suppl 1):S62-S66.
-
(1997)
Eur J Pediatr
, vol.156
, Issue.SUPPL. 1
-
-
Schadewaldt, P.1
Wendel, U.2
-
33
-
-
0031977378
-
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
-
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: 592-600.
-
(1998)
Pediatr Res
, vol.43
, pp. 592-600
-
-
Schadewaldt, P.1
Bodner, A.2
Brosicke, H.3
Hammen, H.W.4
Wendel, U.5
-
34
-
-
1842867903
-
Post-absorptive and insulin-mediated muscle protein metabolism in liver-transplanted patients
-
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;39:203-208.
-
(2002)
Acta Diabetol
, vol.39
, pp. 203-208
-
-
Luzi, L.1
Regalia, E.2
Pulvirenti, A.3
Piceni Sereni, L.4
Spessot, M.5
Romito, R.6
|