-
1
-
-
0029035831
-
Long term follow up of 77 patients with isolated methylmalonic acidaemia
-
Baumgarter ER, Viardot C (1995) Long term follow up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18:138-142
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 138-142
-
-
Baumgarter, E.R.1
Viardot, C.2
-
2
-
-
0036185881
-
Metabolic stroke in methylmalonic acidemia five years after liver transplantation
-
DOI 10.1067/mpd.2002.121698
-
Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV (2002) Metabolic stroke in methylmalonic acidaemia five years after liver transplantation. J Pediatr 140:261-263 (Pubitemid 34183672)
-
(2002)
Journal of Pediatrics
, vol.140
, Issue.2
, pp. 261-263
-
-
Chakrapani, A.1
Sivakumar, P.2
McKiernan, P.J.3
Leonard, J.V.4
-
3
-
-
65349127550
-
Mitochondrial dysfunction in mut methylmalonic academia
-
Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP (2009) Mitochondrial dysfunction in mut methylmalonic academia. FASEB J 23:1252-1261
-
(2009)
FASEB J
, vol.23
, pp. 1252-1261
-
-
Chandler, R.J.1
Zerfas, P.M.2
Shanske, S.3
Sloan, J.4
Hoffmann, V.5
DiMauro, S.6
Venditti, C.P.7
-
4
-
-
30944455972
-
12-responsive cblA-type methylmalonic acidaemia
-
DOI 10.1007/s00467-005-2071-x
-
Coman D, Huang J, McTaggart S, Sakamoto O, Ohura T, McGill J, Burke J (2006) Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA type methylmalonic academia. Pediatr Nephrol 21:270-273 (Pubitemid 43115883)
-
(2006)
Pediatric Nephrology
, vol.21
, Issue.2
, pp. 270-273
-
-
Coman, D.1
Huang, J.2
McTaggart, S.3
Sakamoto, O.4
Ohura, T.5
McGill, J.6
Burke, J.7
-
5
-
-
0037115485
-
12-dependent methylmalonic aciduria
-
DOI 10.1093/hmg/11.26.3361
-
Dobson CM, Wai T, Leclerc D et al. (2002) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet 11 (26):3361-3369 (Pubitemid 36054664)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.26
, pp. 3361-3369
-
-
Dobson, C.M.1
Wai, T.2
Leclerc, D.3
Kadir, H.4
Narang, M.5
Lerner-Ellis, J.P.6
Hudson, T.J.7
Rosenblatt, D.S.8
Gravel, R.A.9
-
7
-
-
4844223887
-
Pathophysiology, diagnosis, and treatment of methylmalonic aciduria - Recent advances and new challenges
-
DOI 10.1007/s00467-004-1572-3
-
Hörster F, Hoffmann GF (2004) Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 19:1071-1074 (Pubitemid 39317510)
-
(2004)
Pediatric Nephrology
, vol.19
, Issue.10
, pp. 1071-1074
-
-
Horster, F.1
Hoffmann, G.F.2
-
8
-
-
34547617321
-
-, cblA, cblB)
-
DOI 10.1203/PDR.0b013e3180a0325f, PII 0000645020070800000024
-
Hörster F, Baumgartner MR, Viardot C et al. (2007) Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, clbA, clbB). Pediatr Res 62:225-230 (Pubitemid 47205728)
-
(2007)
Pediatric Research
, vol.62
, Issue.2
, pp. 225-230
-
-
Horster, F.1
Baumgartner, M.R.2
Viardot, C.3
Suormala, T.4
Burgard, P.5
Fowler, B.6
Hoffmann, G.F.7
Garbade, S.F.8
Kolker, S.9
Baumgartner, E.R.10
-
9
-
-
33746272227
-
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
-
DOI 10.1016/j.ymgme.2006.04.003, PII S1096719206001405
-
Kaplan P, Ficicioglu C, Mazur AT, Palmieri MJ, Berry GT (2006) Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonic-CoA mutase deficiency. Mol Genet Metab 88:322-326 (Pubitemid 44107771)
-
(2006)
Molecular Genetics and Metabolism
, vol.88
, Issue.4
, pp. 322-326
-
-
Kaplan, P.1
Ficicioglu, C.2
Mazur, A.T.3
Palmieri, M.J.4
Berry, G.T.5
-
11
-
-
0034756760
-
Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure
-
DOI 10.1007/s004670100688
-
Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA (2001) Kidney transplantation in a girl with methylmalonic academia and end stage renal failure. Pediatr Nephrol 16:848-851 (Pubitemid 33040638)
-
(2001)
Pediatric Nephrology
, vol.16
, Issue.11
, pp. 848-851
-
-
Lubrano, R.1
Scoppi, P.2
Barsotti, P.3
Travasso, E.4
Scateni, S.5
Cristaldi, S.6
Castello, M.A.7
-
12
-
-
34548461734
-
Renal transplant in methylmalonic academia: Could it be the best option? Report on a case at 10 years and review of the literature
-
Lubrano R, Elli M, Rossi M et al. (2007) Renal transplant in methylmalonic academia: could it be the best option? Report on a case at 10 years and review of the literature. Pediatr Nephrol 22:1209-1214
-
(2007)
Pediatr Nephrol
, vol.22
, pp. 1209-1214
-
-
Lubrano, R.1
Elli, M.2
Rossi, M.3
-
13
-
-
36849006432
-
Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature
-
DOI 10.1016/j.ymgme.2007.08.119, PII S1096719207002569
-
McGuire PJ, Lim-Melia E, Diaz GA, Raymond K, Larkin A, Wasserstein MP, Sansaricq C (2008) Combined liver-kidney transplantation for management of methylmalonic aciduria:a case report and review of the literature. Mol Genet Metab 93:22-29 (Pubitemid 350236001)
-
(2008)
Molecular Genetics and Metabolism
, vol.93
, Issue.1
, pp. 22-29
-
-
Mc, G.P.J.1
Lim-Melia, E.2
Diaz, G.A.3
Raymond, K.4
Larkin, A.5
Wasserstein, M.P.6
Sansaricq, C.7
-
14
-
-
40849097529
-
Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake
-
Mirandola SR, Melo DR, Schuck PF, Ferreira GC, Wajner M, Castilho RF (2008) Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake. J Inherit Metab Dis 31(1):44-54
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.1
, pp. 44-54
-
-
Mirandola, S.R.1
Melo, D.R.2
Schuck, P.F.3
Ferreira, G.C.4
Wajner, M.5
Castilho, R.F.6
-
15
-
-
40749086850
-
Neurodegeneration and chronic renal failure in methylmalonic aciduria - A pathophysiological approach
-
DOI 10.1007/s10545-007-0571-5
-
Morath MA, Okun JG, Müller IB, Sauer SW, Hörster F, Hoffmann GF, Kölker S (2008) Neurodegeneration and chronic renal failure in methylmalonic aciduria - a pathophysiological approach. J Inherit Metab Dis 31(1):35-43 (Pubitemid 351384881)
-
(2008)
Journal of Inherited Metabolic Disease
, vol.31
, Issue.1
, pp. 35-43
-
-
Morath, M.A.1
Okun, J.G.2
Muller, I.B.3
Sauer, S.W.4
Horster, F.5
Hoffmann, G.F.6
Kolker, S.7
-
16
-
-
35748977085
-
Efficacy of living donor liver transplantation for patients with methylmalonic acidemia
-
DOI 10.1111/j.1600-6143.2007.01986.x
-
Morioka D, Kasahara M, Horikawa R, Yokoyama S, Fukuda A, Nakagawa A (2007) Efficacy of living donor liver transplantation for patients with methylmalonic academia. Am J Transplant 7:2782-2787 (Pubitemid 350045764)
-
(2007)
American Journal of Transplantation
, vol.7
, Issue.12
, pp. 2782-2787
-
-
Morioka, D.1
Kasahara, M.2
Horikawa, R.3
Yokoyama, S.4
Fukuda, A.5
Nakagawa, A.6
-
17
-
-
19944385971
-
Management of methylmalonic acidaemia by combined liver - Kidney transplantation
-
DOI 10.1007/s10545-005-0517-8
-
Nagarajan S, Enns GM, Millan MT, Winter S, Sarwal MM (2005) Management of methymalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis 28:517-524 (Pubitemid 40753679)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.4
, pp. 517-524
-
-
Nagarajan, S.1
Enns, G.M.2
Millan, M.T.3
Winter, S.4
Sarwal, M.M.5
-
18
-
-
0036305659
-
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
-
DOI 10.1007/s00431-002-0970-4
-
Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R (2002) Progressive neurological disability in methylmalonic acidaemia despite transplantation of the liver. Eur J Pediatr 161:377-379 (Pubitemid 34744012)
-
(2002)
European Journal of Pediatrics
, vol.161
, Issue.7
, pp. 377-379
-
-
Nyhan, W.L.1
Gargus, J.J.2
Boyle, K.3
Selby, R.4
Koch, R.5
-
20
-
-
19444376924
-
Methylmalonic and propionic acidaemias: Management and outcome
-
DOI 10.1007/s10545-005-7056-1
-
Ogier de Baulny H, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM (2005) Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 28:415-423 (Pubitemid 40723875)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.3
, pp. 415-423
-
-
De Baulny, H.O.1
Benoist, J.F.2
Rigal, O.3
Touati, G.4
Rabier, D.5
Saudubray, J.M.6
-
21
-
-
4844224288
-
Successful dialysis in a boy with methylmalonic acidemia [1]
-
DOI 10.1007/s00467-003-1409-5
-
Paik KH, Lee JE, Jin D-K (2004) Successful dialysis in a boy with methylmalonic academia. Pediatr Nephrol 19:1180-1181 (Pubitemid 39317529)
-
(2004)
Pediatric Nephrology
, vol.19
, Issue.10
, pp. 1180-1181
-
-
Paik, K.H.1
Lee, J.E.2
Jin, D.-K.3
-
22
-
-
0027464944
-
Tubulointerstial nephritis in methylmalonic acidaemia
-
Rutledge SL, Geraghty M, Mroczek E, Rosenblatt D, Kohout E (1993) Tubulointerstial nephritis in methylmalonic acidaemia. Pediatr Nephrol 7:81-82
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 81-82
-
-
Rutledge, S.L.1
Geraghty, M.2
Mroczek, E.3
Rosenblatt, D.4
Kohout, E.5
-
23
-
-
0031751258
-
Renal transplantation in a patient with methylmalonic acidaemia
-
DOI 10.1023/A:1005493015489
-
Van Calcar SC, Harding CO, Lyne P et al. (1998) Renal transplantation in a patient with methylmalonic acidaemia. J Inherit Metab Dis 21:729-737 (Pubitemid 28477145)
-
(1998)
Journal of Inherited Metabolic Disease
, vol.21
, Issue.7
, pp. 729-737
-
-
Van Calcar, S.C.1
Harding, C.O.2
Lyne, P.3
Hogan, K.4
Banerjee, R.5
Sollinger, H.6
Rieselbach, R.E.7
Wolff, J.A.8
-
24
-
-
0031814736
-
Combined liverkidney transplantation in methylmalonic academia
-
Van't Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard JV (1998) Combined liverkidney transplantation in methylmalonic academia. J Pediatr 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
-
26
-
-
0024587436
-
Chronic renal failure in methylmalonic acidaemia
-
DOI 10.1007/BF00444131
-
Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ (1989) Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 148:344-348 (Pubitemid 19031045)
-
(1989)
European Journal of Pediatrics
, vol.148
, Issue.4
, pp. 344-348
-
-
Walter, J.H.1
Michalski, A.2
Wilson, W.M.3
Leonard, J.V.4
Barratt, T.M.5
Dillon, M.J.6
|