-
1
-
-
0035158447
-
Gene preference in maple syrup urine disease
-
doi: 10.1086/316950
-
Nellis MM, Danner DJ. Gene preference in maple syrup urine disease. Am J Hum Genet 2001; 68: 232-237, doi: 10.1086/316950.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 232-237
-
-
Nellis, M.M.1
Danner, D.J.2
-
2
-
-
0041488073
-
Branched-chain ketoacyl dehydrogenase deficiency: Maple syrup disease
-
doi: 10.1007/s11940-003-0039-3
-
Strauss KA, Morton DH. Branched-chain ketoacyl dehydrogenase deficiency: maple syrup disease. Curr Treat Options Neurol 2003; 5: 329-341, doi: 10.1007/s11940-003-0039-3.
-
(2003)
Curr Treat Options Neurol
, vol.5
, pp. 329-341
-
-
Strauss, K.A.1
Morton, D.H.2
-
3
-
-
33644892168
-
Elective liver transplantation for the treatment of classical maple syrup urine disease
-
doi: 10.1111/j.1600-6143.2005. 01209.x
-
Strauss KA, Mazariegos GV, Sindhi R, Squires R, Finegold DN, Vockley G, et al. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant 2006; 6: 557-564, doi: 10.1111/j.1600-6143.2005. 01209.x.
-
(2006)
Am J Transplant
, vol.6
, pp. 557-564
-
-
Strauss, K.A.1
Mazariegos, G.V.2
Sindhi, R.3
Squires, R.4
Finegold, D.N.5
Vockley, G.6
-
4
-
-
84255187722
-
Domino liver transplantation: How far can we push the paradigm?
-
doi: 10.1002/lt.22443
-
Popescu I, Dima SO. Domino liver transplantation: how far can we push the paradigm? Liver Transpl 2012; 18: 22-28, doi: 10.1002/lt.22443.
-
(2012)
Liver Transpl
, vol.18
, pp. 22-28
-
-
Popescu, I.1
Dima, S.O.2
-
5
-
-
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
-
6
-
-
82955248056
-
Liver transplantation for classical maple syrup urine disease: Long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience
-
doi: 10.1016/j.jpeds.2011.06.033
-
Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, et al. Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr 2012; 160: 116-121, doi: 10.1016/j.jpeds.2011.06.033.
-
(2012)
J Pediatr
, vol.160
, pp. 116-121
-
-
Mazariegos, G.V.1
Morton, D.H.2
Sindhi, R.3
Soltys, K.4
Nayyar, N.5
Bond, G.6
-
7
-
-
78751655823
-
Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series
-
doi: 10.1111/ j.1399-3046.2010.01411.x
-
Shellmer DA, DeVito DA, Dew MA, Noll RB, Feldman H, Strauss KA, et al. Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series. Pediatr Transplant 2011; 15: 58-64, doi: 10.1111/ j.1399-3046.2010.01411.x.
-
(2011)
Pediatr Transplant
, vol.15
, pp. 58-64
-
-
Shellmer, D.A.1
DeVito, D.A.2
Dew, M.A.3
Noll, R.B.4
Feldman, H.5
Strauss, K.A.6
-
8
-
-
31544455515
-
Lessons from genetic disorders of branched-chain amino acid metabolism
-
Chuang DT, Chuang JL, Wynn RM. Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr 2006; 136: 243S-249S.
-
(2006)
J Nutr
, vol.136
-
-
Chuang, D.T.1
Chuang, J.L.2
Wynn, R.M.3
-
9
-
-
33646438536
-
Domino liver transplantation in maple syrup urine disease
-
doi: 10.1002/ lt.20744
-
Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. Domino liver transplantation in maple syrup urine disease. Liver Transpl 2006; 12: 876-882, doi: 10.1002/ lt.20744.
-
(2006)
Liver Transpl
, vol.12
, pp. 876-882
-
-
Khanna, A.1
Hart, M.2
Nyhan, W.L.3
Hassanein, T.4
Panyard-Davis, J.5
Barshop, B.A.6
-
10
-
-
33644803431
-
Living donor liver transplantation for pediatric patients with inheritable metabolic disorders
-
doi: 10.1111/j.1600-6143. 2005.01084.x
-
Morioka D, Kasahara M, Takada Y, Corrales JP, Yoshizawa A, Sakamoto S, et al. Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Am J Transplant 2005; 5: 2754-2763, doi: 10.1111/j.1600-6143. 2005.01084.x.
-
(2005)
Am J Transplant
, vol.5
, pp. 2754-2763
-
-
Morioka, D.1
Kasahara, M.2
Takada, Y.3
Corrales, J.P.4
Yoshizawa, A.5
Sakamoto, S.6
-
11
-
-
37249079738
-
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease
-
doi: 10.1007/s10545-007-0579-x
-
Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. J Inherit Metab Dis 2007; 30: 903-909, doi: 10.1007/s10545-007-0579-x.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 903-909
-
-
Flaschker, N.1
Feyen, O.2
Fend, S.3
Simon, E.4
Schadewaldt, P.5
Wendel, U.6
-
12
-
-
0024595175
-
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease
-
doi: 10.1172/JCI114033
-
Zhang B, Edenberg HJ, Crabb DW, Harris RA. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. J Clin Invest 1989; 83: 1425-1429, doi: 10.1172/JCI114033.
-
(1989)
J Clin Invest
, vol.83
, pp. 1425-1429
-
-
Zhang, B.1
Edenberg, H.J.2
Crabb, D.W.3
Harris, R.A.4
-
13
-
-
0030662182
-
Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease
-
doi: 10.1016/S0925-4439(97)00046-X
-
McConnell BB, Burkholder B, Danner DJ. Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease. Biochim Biophys Acta 1997; 1361: 263-271, doi: 10.1016/S0925-4439(97)00046-X.
-
(1997)
Biochim Biophys Acta
, vol.1361
, pp. 263-271
-
-
McConnell, B.B.1
Burkholder, B.2
Danner, D.J.3
-
14
-
-
0020030002
-
Detection of heterozygotes in maple-syrup-urine disease: Measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures
-
Chuang DT, Ku LS, Kerr DS, Cox RP. Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures. Am J Hum Genet 1982; 34: 416-424.
-
(1982)
Am J Hum Genet
, vol.34
, pp. 416-424
-
-
Chuang, D.T.1
Ku, L.S.2
Kerr, D.S.3
Cox, R.P.4
-
15
-
-
0015865881
-
Variant maple syrup urine disease in mother and daughter
-
Zaleski LA, Dancis J, Cox RP, Hutzler J, Zaleski WA, Hill A. Variant maple syrup urine disease in mother and daughter. Can Med Assoc J 1973; 109: 299-300.
-
(1973)
Can Med Assoc J
, vol.109
, pp. 299-300
-
-
Zaleski, L.A.1
Dancis, J.2
Cox, R.P.3
Hutzler, J.4
Zaleski, W.A.5
Hill, A.6
-
16
-
-
0031616312
-
Molecular basis of intermittent maple syrup urine disease: Novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex
-
doi: 10.1007/s100380050047
-
Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, et al. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. J Hum Genet 1998; 43: 91-100, doi: 10.1007/s100380050047.
-
(1998)
J Hum Genet
, vol.43
, pp. 91-100
-
-
Tsuruta, M.1
Mitsubuchi, H.2
Mardy, S.3
Miura, Y.4
Hayashida, Y.5
Kinugasa, A.6
-
17
-
-
2142797543
-
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease
-
doi: 10.1002/humu.9187
-
Henneke M, Flaschker N, Helbling C, Muller M, Schadewaldt P, Gartner J, et al. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum Mutat 2003; 22: 417, doi: 10.1002/humu.9187.
-
(2003)
Hum Mutat
, vol.22
, pp. 417
-
-
Henneke, M.1
Flaschker, N.2
Helbling, C.3
Muller, M.4
Schadewaldt, P.5
Gartner, J.6
-
18
-
-
70350671733
-
Automated inference of molecular mechanisms of disease from amino acid substitutions
-
doi: 10.1093/bioinformatics/btp528
-
Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009; 25: 2744-2750, doi: 10.1093/bioinformatics/btp528.
-
(2009)
Bioinformatics
, vol.25
, pp. 2744-2750
-
-
Li, B.1
Krishnan, V.G.2
Mort, M.E.3
Xin, F.4
Kamati, K.K.5
Cooper, D.N.6
-
19
-
-
77950675670
-
Modified pediatric end-stage liver disease scoring system and pediatric liver transplantation in Brazil
-
Neto JS, Carone E, Pugliese RP, Fonseca EA, Porta G, Miura I, et al. Modified pediatric end-stage liver disease scoring system and pediatric liver transplantation in Brazil. Liver Transpl 2010; 16: 426-430.
-
(2010)
Liver Transpl
, vol.16
, pp. 426-430
-
-
Neto, J.S.1
Carone, E.2
Pugliese, R.P.3
Fonseca, E.A.4
Porta, G.5
Miura, I.6
-
20
-
-
25444503514
-
Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: Impact of the use of heterozygous donors
-
doi: 10.1097/01.tp.0000167995.46778.72
-
Morioka D, Takada Y, Kasahara M, Ito T, Uryuhara K, Ogawa K, et al. Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors. Transplantation 2005; 80: 623-628, doi: 10.1097/01.tp.0000167995.46778.72.
-
(2005)
Transplantation
, vol.80
, pp. 623-628
-
-
Morioka, D.1
Takada, Y.2
Kasahara, M.3
Ito, T.4
Uryuhara, K.5
Ogawa, K.6
|