-
1
-
-
0002911516
-
-
McGraw-Hill, Inc., New York Scriver CR, Beaudet AL, Sly WS, Valle D 8
-
Fenton WA Gravel RA Rosenblatt DS Disorders of Propionate and Methylmalonate Metabolism in The Metabolic and Molecular Bases for Inhertited Disease McGraw-Hill, Inc., New York Scriver CR, Beaudet AL, Sly WS, Valle D 8 2001 2165-2192
-
(2001)
Disorders of Propionate and Methylmalonate Metabolism in The Metabolic and Molecular Bases for Inhertited Disease
, pp. 2165-2192
-
-
Fenton, W.A.1
Gravel, R.A.2
Rosenblatt, D.S.3
-
2
-
-
0014144167
-
Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis
-
6061291
-
Oberholzer VG Levin B Burgess EA Young WF Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis Arch Dis Child 1967 42 492-504 6061291
-
(1967)
Arch Dis Child
, vol.42
, pp. 492-504
-
-
Oberholzer, V.G.1
Levin, B.2
Burgess, E.A.3
Young, W.F.4
-
4
-
-
0020539836
-
The natural history of the inherited methylmalonic acidemias
-
6132336
-
Matsui SM Mahoney MJ Rosenberg LE The natural history of the inherited methylmalonic acidemias N Engl J Med 1983 308 857-861 6132336
-
(1983)
N Engl J Med
, vol.308
, pp. 857-861
-
-
Matsui, S.M.1
Mahoney, M.J.2
Rosenberg, L.E.3
-
5
-
-
0028063308
-
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia
-
10.1016/S0022-3476(05)82005-0 7996362
-
van der Meer SB Poggi F Spada M Bonnefont JP Ogier H Hubert P Depondt E Rapoport D Rabier D Charpentier C Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia J Pediatr 1994 125 903-908 10.1016/S0022-3476(05)82005-0 7996362
-
(1994)
J Pediatr
, vol.125
, pp. 903-908
-
-
van der Meer, S.B.1
Poggi, F.2
Spada, M.3
Bonnefont, J.P.4
Ogier, H.5
Hubert, P.6
Depondt, E.7
Rapoport, D.8
Rabier, D.9
Charpentier, C.10
-
6
-
-
0031777789
-
Neurological outcome of methylmalonic acidaemia
-
9713004
-
Nicolaides P Leonard J Surtees R Neurological outcome of methylmalonic acidaemia Arch Dis Child 1998 78 508-512 9713004
-
(1998)
Arch Dis Child
, vol.78
, pp. 508-512
-
-
Nicolaides, P.1
Leonard, J.2
Surtees, R.3
-
8
-
-
13444281894
-
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut-forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene
-
10.1002/humu.20128 15643616
-
Acquaviva C Benoist JF Pereira S Callebaut I Koskas T Porquet D Elion J Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut-forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene Hum Mutat 2005 25 167-176 10.1002/humu.20128 15643616
-
(2005)
Hum Mutat
, vol.25
, pp. 167-176
-
-
Acquaviva, C.1
Benoist, J.F.2
Pereira, S.3
Callebaut, I.4
Koskas, T.5
Porquet, D.6
Elion, J.7
-
9
-
-
29944442438
-
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype
-
10.1002/humu.20258 16281286
-
Worgan LC Niles K Tirone JC Hofmann A Verner A Sammak A Kucic T Lepage P Rosenblatt DS Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype Hum Mutat 2006 27 31-43 10.1002/humu.20258 16281286
-
(2006)
Hum Mutat
, vol.27
, pp. 31-43
-
-
Worgan, L.C.1
Niles, K.2
Tirone, J.C.3
Hofmann, A.4
Verner, A.5
Sammak, A.6
Kucic, T.7
Lepage, P.8
Rosenblatt, D.S.9
-
10
-
-
0023153557
-
Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: Detection of a mutation interfering with mitochondrial import
-
304442 2881300 10.1073/pnas.84.5.1421
-
Fenton WA Hack AM Kraus JP Rosenberg LE Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: Detection of a mutation interfering with mitochondrial import Proc Natl Acad Sci USA 1987 84 1421-1424 304442 2881300 10.1073/ pnas.84.5.1421
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 1421-1424
-
-
Fenton, W.A.1
Hack, A.M.2
Kraus, J.P.3
Rosenberg, L.E.4
-
11
-
-
0030760612
-
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut-phenotype: Evidence for naturally occurring interallelic complementation
-
10.1093/hmg/6.9.1457 9285782
-
Janata J Kogekar N Fenton WA Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut-phenotype: Evidence for naturally occurring interallelic complementation Hum Mol Genet 1997 6 1457-1464 10.1093/hmg/6.9.1457 9285782
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1457-1464
-
-
Janata, J.1
Kogekar, N.2
Fenton, W.A.3
-
12
-
-
0028122089
-
Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia
-
7912889
-
Crane AM Ledley FD Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia Am J Hum Genet 1994 55 42-50 7912889
-
(1994)
Am J Hum Genet
, vol.55
, pp. 42-50
-
-
Crane, A.M.1
Ledley, F.D.2
-
13
-
-
0028117172
-
Pancreatitis in patients with organic acidemias
-
8301430
-
Kahler SG Sherwood WG Woolf D Lawless ST Zaritsky A Bonham J Taylor CJ Clarke JT Durie P Leonard JV Pancreatitis in patients with organic acidemias J Pediatr 1994 124 239-243 8301430
-
(1994)
J Pediatr
, vol.124
, pp. 239-243
-
-
Kahler, S.G.1
Sherwood, W.G.2
Woolf, D.3
Lawless, S.T.4
Zaritsky, A.5
Bonham, J.6
Taylor, C.J.7
Clarke, J.T.8
Durie, P.9
Leonard, J.V.10
-
14
-
-
0024246645
-
Acute extrapyramidal syndrome in methylmalonic acidemia: "Metabolic stroke" involving the globus pallidus
-
10.1016/S0022-3476(88)80574-2 3193307
-
Heidenreich R Natowicz M Hainline BE Berman P Kelley RI Hillman RE Berry GT Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus J Pediatr 1988 113 1022-1027 10.1016/S0022-3476(88)80574-2 3193307
-
(1988)
J Pediatr
, vol.113
, pp. 1022-1027
-
-
Heidenreich, R.1
Natowicz, M.2
Hainline, B.E.3
Berman, P.4
Kelley, R.I.5
Hillman, R.E.6
Berry, G.T.7
-
15
-
-
0022550561
-
Bilateral lucency of the globus pallidus complicating methylmalonic acidemia
-
10.1002/ana.410200317 3767321
-
Korf B Wallman JK Levy HL Bilateral lucency of the globus pallidus complicating methylmalonic acidemia Ann Neurol 1986 20 364-366 10.1002/ ana.410200317 3767321
-
(1986)
Ann Neurol
, vol.20
, pp. 364-366
-
-
Korf, B.1
Wallman, J.K.2
Levy, H.L.3
-
16
-
-
0029035831
-
Long-term follow-up of 77 patients with isolated methylmalonic acidaemia
-
10.1007/BF00711749 7564229
-
Baumgarter ER Viardot C Long-term follow-up of 77 patients with isolated methylmalonic acidaemia J Inherit Metab Dis 1995 18 138-142 10.1007/ BF00711749 7564229
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 138-142
-
-
Baumgarter, E.R.1
Viardot, C.2
-
17
-
-
0021028824
-
Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups
-
6651329
-
Roe CR Hoppel CL Stacey TE Chalmers RA Tracey BM Millington DS Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups Arch Dis Child 1983 58 916-920 6651329
-
(1983)
Arch Dis Child
, vol.58
, pp. 916-920
-
-
Roe, C.R.1
Hoppel, C.L.2
Stacey, T.E.3
Chalmers, R.A.4
Tracey, B.M.5
Millington, D.S.6
-
19
-
-
18544363433
-
Long-term survival after liver transplantation in children with metabolic disorders
-
10.1034/j.1399-3046.2002.02009.x 12234269
-
Kayler LK Merion RM Lee S Sung RS Punch JD Rudich SM Turcotte JG Campbell DA Jr Holmes R Magee JC Long-term survival after liver transplantation in children with metabolic disorders Pediatr Transplant 2002 6 295-300 10.1034/j.1399-3046.2002.02009.x 12234269
-
(2002)
Pediatr Transplant
, vol.6
, pp. 295-300
-
-
Kayler, L.K.1
Merion, R.M.2
Lee, S.3
Sung, R.S.4
Punch, J.D.5
Rudich, S.M.6
Turcotte, J.G.7
Campbell Jr., D.A.8
Holmes, R.9
Magee, J.C.10
-
20
-
-
0036305659
-
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
-
10.1007/s00431-002-0970-4 12111189
-
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 10.1007/s00431-002-0970-4 12111189
-
(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
-
21
-
-
0036185881
-
Metabolic stroke in methylmalonic acidemia five years after liver transplantation
-
10.1067/mpd.2002.121698 11865284
-
Chakrapani A Sivakumar P McKiernan PJ Leonard JV Metabolic stroke in methylmalonic acidemia five years after liver transplantation J Pediatr 2002 140 261-263 10.1067/mpd.2002.121698 11865284
-
(2002)
J Pediatr
, vol.140
, pp. 261-263
-
-
Chakrapani, A.1
Sivakumar, P.2
McKiernan, P.J.3
Leonard, J.V.4
-
23
-
-
0027056872
-
Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer
-
10.1007/BF01232647 1363156
-
Sawada T Ledley FD Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer Somat Cell Mol Genet 1992 18 507-516 10.1007/BF01232647 1363156
-
(1992)
Somat Cell Mol Genet
, vol.18
, pp. 507-516
-
-
Sawada, T.1
Ledley, F.D.2
-
25
-
-
33746982979
-
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: Evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism
-
10.1016/j.ymgme.2006.06.001 16843692
-
Chandler RJ Aswani V Tsai MS Falk M Wehrli N Stabler S Allen R Sedensky M Kazazian HH Venditti CP Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: Evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism Mol Genet Metab 2006 89 64-73 10.1016/j.ymgme.2006.06.001 16843692
-
(2006)
Mol Genet Metab
, vol.89
, pp. 64-73
-
-
Chandler, R.J.1
Aswani, V.2
Tsai, M.S.3
Falk, M.4
Wehrli, N.5
Stabler, S.6
Allen, R.7
Sedensky, M.8
Kazazian, H.H.9
Venditti, C.P.10
-
26
-
-
0032794135
-
The use of human hepatocyte cultures to study the induction of cytochrome P-450
-
10421615
-
Kostrubsky VE Ramachandran V Venkataramanan R Dorko K Esplen JE Zhang S Sinclair JF Wrighton SA Strom SC The use of human hepatocyte cultures to study the induction of cytochrome P-450 Drug Metab Dispos 1999 27 887-894 10421615
-
(1999)
Drug Metab Dispos
, vol.27
, pp. 887-894
-
-
Kostrubsky, V.E.1
Ramachandran, V.2
Venkataramanan, R.3
Dorko, K.4
Esplen, J.E.5
Zhang, S.6
Sinclair, J.F.7
Wrighton, S.A.8
Strom, S.C.9
-
28
-
-
0034123892
-
A simple method for the rapid generation of recombinant adenovirus vectors
-
10.1038/sj.gt.3301197 10871752
-
Anderson RD Haskell RE Xia H Roessler BJ Davidson BL A simple method for the rapid generation of recombinant adenovirus vectors Gene Ther 2000 7 1034-1038 10.1038/sj.gt.3301197 10871752
-
(2000)
Gene Ther
, vol.7
, pp. 1034-1038
-
-
Anderson, R.D.1
Haskell, R.E.2
Xia, H.3
Roessler, B.J.4
Davidson, B.L.5
-
29
-
-
0017184537
-
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells
-
10.1007/BF00295291 1002151
-
Willard HF Ambani LM Hart AC Mahoney MJ Rosenberg LE Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells Hum Genet 1976 34 277-283 10.1007/BF00295291 1002151
-
(1976)
Hum Genet
, vol.34
, pp. 277-283
-
-
Willard, H.F.1
Ambani, L.M.2
Hart, A.C.3
Mahoney, M.J.4
Rosenberg, L.E.5
-
30
-
-
0025761374
-
Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts
-
329882 1671869
-
Wilkemeyer MF Crane AM Ledley FD Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts J Clin Invest 1991 87 915-918 329882 1671869
-
(1991)
J Clin Invest
, vol.87
, pp. 915-918
-
-
Wilkemeyer, M.F.1
Crane, A.M.2
Ledley, F.D.3
-
31
-
-
0025162802
-
Primary structure and activity of mouse methylmalonyl-CoA mutase
-
1149575 1978672
-
Wilkemeyer MF Crane AM Ledley FD Primary structure and activity of mouse methylmalonyl-CoA mutase Biochem J 1990 271 449-455 1149575 1978672
-
(1990)
Biochem J
, vol.271
, pp. 449-455
-
-
Wilkemeyer, M.F.1
Crane, A.M.2
Ledley, F.D.3
-
32
-
-
0034916889
-
Differences in the human and mouse amino-terminal leader peptides of ornithine transcarbamylase affect mitochondrial import and efficacy of adenoviral vectors
-
10.1089/104303401750214267 11399226
-
Ye X Zimmer KP Brown R Pabin C Batshaw ML Wilson JM Robinson MB Differences in the human and mouse amino-terminal leader peptides of ornithine transcarbamylase affect mitochondrial import and efficacy of adenoviral vectors Hum Gene Ther 2001 12 1035-1046 10.1089/ 104303401750214267 11399226
-
(2001)
Hum Gene Ther
, vol.12
, pp. 1035-1046
-
-
Ye, X.1
Zimmer, K.P.2
Brown, R.3
Pabin, C.4
Batshaw, M.L.5
Wilson, J.M.6
Robinson, M.B.7
-
33
-
-
0347362790
-
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality
-
10.1074/jbc.M310533200 14555645
-
Peters H Nefedov M Sarsero J Pitt J Fowler KJ Gazeas S Kahler SG Ioannou PA A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality J Biol Chem 2003 278 52909-52913 10.1074/ jbc.M310533200 14555645
-
(2003)
J Biol Chem
, vol.278
, pp. 52909-52913
-
-
Peters, H.1
Nefedov, M.2
Sarsero, J.3
Pitt, J.4
Fowler, K.J.5
Gazeas, S.6
Kahler, S.G.7
Ioannou, P.A.8
-
34
-
-
26444531132
-
Genetic and genomic systems to study methylmalonic acidemia
-
10.1016/j.ymgme.2005.07.020 16182581
-
Chandler RJ Venditti CP Genetic and genomic systems to study methylmalonic acidemia Mol Genet Metab 2005 86 34-43 10.1016/ j.ymgme.2005.07.020 16182581
-
(2005)
Mol Genet Metab
, vol.86
, pp. 34-43
-
-
Chandler, R.J.1
Venditti, C.P.2
-
35
-
-
0027057917
-
Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: Implications for somatic gene therapy
-
10.1007/BF01232646 1363155
-
Wilkemeyer M Stankovics J Foy T Ledley FD Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: Implications for somatic gene therapy Somat Cell Mol Genet 1992 18 493-505 10.1007/BF01232646 1363155
-
(1992)
Somat Cell Mol Genet
, vol.18
, pp. 493-505
-
-
Wilkemeyer, M.1
Stankovics, J.2
Foy, T.3
Ledley, F.D.4
-
36
-
-
19944385971
-
Management of methylmalonic acidaemia by combined liver-kidney transplantation
-
10.1007/s10545-005-0517-8 15902554
-
Nagarajan S Enns GM Millan MT Winter S Sarwal MM Management of methylmalonic acidaemia by combined liver-kidney transplantation J Inherit Metab Dis 2005 28 517-524 10.1007/s10545-005-0517-8 15902554
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 517-524
-
-
Nagarajan, S.1
Enns, G.M.2
Millan, M.T.3
Winter, S.4
Sarwal, M.M.5
-
37
-
-
33746272227
-
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
-
10.1016/j.ymgme.2006.04.003 16750411
-
Kaplan P Ficicioglu C Mazur AT Palmieri MJ Berry GT Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency Mol Genet Metab 2006 88 322-326 10.1016/j.ymgme.2006.04.003 16750411
-
(2006)
Mol Genet Metab
, vol.88
, pp. 322-326
-
-
Kaplan, P.1
Ficicioglu, C.2
Mazur, A.T.3
Palmieri, M.J.4
Berry, G.T.5
-
38
-
-
0025971495
-
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut-methylmalonic aciduria by interallelic complementation
-
295026 1670635
-
Raff ML Crane AM Jansen R Ledley FD Rosenblatt DS Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut-methylmalonic aciduria by interallelic complementation J Clin Invest 1991 87 203-207 295026 1670635
-
(1991)
J Clin Invest
, vol.87
, pp. 203-207
-
-
Raff, M.L.1
Crane, A.M.2
Jansen, R.3
Ledley, F.D.4
Rosenblatt, D.S.5
-
39
-
-
33750600921
-
Current role of liver transplantation for methylmalonic acidemia: A review of the literature
-
10.1111/j.1399-3046.2006.00585.x 17096763
-
Kasahara M Horikawa R Tagawa M Uemoto S Yokoyama S Shibata Y Kawano T Kuroda T Honna T Tanaka K Saeki M Current role of liver transplantation for methylmalonic acidemia: A review of the literature Pediatr Transplant 2006 10 943-947 10.1111/j.1399-3046.2006.00585.x 17096763
-
(2006)
Pediatr Transplant
, vol.10
, pp. 943-947
-
-
Kasahara, M.1
Horikawa, R.2
Tagawa, M.3
Uemoto, S.4
Yokoyama, S.5
Shibata, Y.6
Kawano, T.7
Kuroda, T.8
Honna, T.9
Tanaka, K.10
Saeki, M.11
-
40
-
-
33749539646
-
Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review
-
10.1111/j.1399-3046.2006.00569.x 17032422
-
Barshes NR Vanatta JM Patel AJ Carter BA O'Mahony CA Karpen SJ Goss JA Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review Pediatr Transplant 2006 10 773-781 10.1111/j.1399-3046.2006.00569.x 17032422
-
(2006)
Pediatr Transplant
, vol.10
, pp. 773-781
-
-
Barshes, N.R.1
Vanatta, J.M.2
Patel, A.J.3
Carter, B.A.4
O'Mahony, C.A.5
Karpen, S.J.6
Goss, J.A.7
-
42
-
-
33745108529
-
Principles of therapeutic liver repopulation
-
10.1007/s10545-006-0311-2 16763912
-
Grompe M Principles of therapeutic liver repopulation J Inherit Metab Dis 2006 29 421-425 10.1007/s10545-006-0311-2 16763912
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 421-425
-
-
Grompe, M.1
|