-
1
-
-
0021987875
-
Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes
-
De Marcucci OL, Hunter A, Lindsay JG: Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes. Biochem J 1985;226: 509-517.
-
(1985)
Biochem J
, vol.226
, pp. 509-517
-
-
De Marcucci, O.L.1
Hunter, A.2
Lindsay, J.G.3
-
2
-
-
0025828169
-
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Dionici-Vici C, Burlina AB, Bertini E, Bachmann G, Mazziotta MRM, Zacchello F, Sabetta G, Hale DE: Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991;118:744-746.
-
(1991)
J Pediatr
, vol.118
, pp. 744-746
-
-
Dionici-Vici, C.1
Burlina, A.B.2
Bertini, E.3
Bachmann, G.4
Mazziotta, M.R.M.5
Zacchello, F.6
Sabetta, G.7
Hale, D.E.8
-
3
-
-
0028795459
-
Favourable outcome of congenital lactic acidemia due to lipoamide dehydrogenase deficiency
-
Elpeleg ON, Ruitenbeek W, Jakobs C, Barash V, Devivo D, Amir N: Favourable outcome of congenital lactic acidemia due to lipoamide dehydrogenase deficiency. J Pediatr 1995; 126:72-74.
-
(1995)
J Pediatr
, vol.126
, pp. 72-74
-
-
Elpeleg, O.N.1
Ruitenbeek, W.2
Jakobs, C.3
Barash, V.4
Devivo, D.5
Amir, N.6
-
4
-
-
0030769124
-
Lipoamide dehydrogenase deficiency in Ashkenazi-Jews: An insertion mutation in the mitochondrial leader sequence
-
in press
-
Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A: Lipoamide dehydrogenase deficiency in Ashkenazi-Jews: an insertion mutation in the mitochondrial leader sequence. Hum Mutat (in press).
-
Hum Mutat
-
-
Elpeleg, O.N.1
Shaag, A.2
Glustein, J.Z.3
Anikster, Y.4
Joseph, A.5
Saada, A.6
-
5
-
-
0022623425
-
A mitochondrial myopathy: The first case with an established defect at the level of coenzyme Q
-
Fischer JC, Ruitenbeek W, Gabreels FJM, Janssen AJM, Renier WO, Sengers RCA, Stadhouders AM, Ter Laak HJ, Trijbels JMF, Veerkamp JHA: A mitochondrial myopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 1986;144:441-444.
-
(1986)
Eur J Pediatr
, vol.144
, pp. 441-444
-
-
Fischer, J.C.1
Ruitenbeek, W.2
Gabreels, F.J.M.3
Janssen, A.J.M.4
Renier, W.O.5
Sengers, R.C.A.6
Stadhouders, A.M.7
Ter Laak, H.J.8
Trijbels, J.M.F.9
Veerkamp, J.H.A.10
-
6
-
-
0027145130
-
Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins
-
Hall RE, Henrikson KG, Lewis SF, Haller RG, Kennaway NG: Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. J Clin Invest 1993;92:2660-2666.
-
(1993)
J Clin Invest
, vol.92
, pp. 2660-2666
-
-
Hall, R.E.1
Henrikson, K.G.2
Lewis, S.F.3
Haller, R.G.4
Kennaway, N.G.5
-
7
-
-
0026469993
-
Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene
-
Johanning GL, Morris JI, Madhusudhan KT, Samols D, Patel MS: Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene. Proc Natl Acad Sci USA 1992;89:10964-10968.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 10964-10968
-
-
Johanning, G.L.1
Morris, J.I.2
Madhusudhan, K.T.3
Samols, D.4
Patel, M.S.5
-
8
-
-
0030003760
-
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
-
Keightley JA, Hoffbuhr KG, Burton MD, Salas VM, Johnston WSW, Penn AMW, Buist NRM, Kennaway NG: A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1996;12:410-416.
-
(1996)
Nat Genet
, vol.12
, pp. 410-416
-
-
Keightley, J.A.1
Hoffbuhr, K.G.2
Burton, M.D.3
Salas, V.M.4
Johnston, W.S.W.5
Penn, A.M.W.6
Buist, N.R.M.7
Kennaway, N.G.8
-
9
-
-
0021355981
-
Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favourable response to treatment with oral lipoic acid
-
Matalon R, Stumpf DA, Michals K, Hart RD, Parks JK, Goodman SI: Lipoamide dehydrogenase deficiency with primary lactic acidosis: favourable response to treatment with oral lipoic acid. J Pediatr 1983;104:65-69.
-
(1983)
J Pediatr
, vol.104
, pp. 65-69
-
-
Matalon, R.1
Stumpf, D.A.2
Michals, K.3
Hart, R.D.4
Parks, J.K.5
Goodman, S.I.6
-
10
-
-
0020022069
-
Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect. Dihydrolipoyl dehydrogenase deficiency
-
Munnich A, Saudubray JM, Taylor J, Charpentier C, Marsac C, Rocchiccioli F, Amedee-Manesme O, Coude FX, Frezal J, Robinson BH: Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect. Dihydrolipoyl dehydrogenase deficiency. Acta Paediatr Scand 1982;71:167-171.
-
(1982)
Acta Paediatr Scand
, vol.71
, pp. 167-171
-
-
Munnich, A.1
Saudubray, J.M.2
Taylor, J.3
Charpentier, C.4
Marsac, C.5
Rocchiccioli, F.6
Amedee-Manesme, O.7
Coude, F.X.8
Frezal, J.9
Robinson, B.H.10
-
11
-
-
0141610413
-
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
-
Ogashara S, Engel AG, Frens D, Mack D: Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989;86:2379-2382.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2379-2382
-
-
Ogashara, S.1
Engel, A.G.2
Frens, D.3
Mack, D.4
-
12
-
-
0028221809
-
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria
-
Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM: Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 1994;44:467-473.
-
(1994)
Neurology
, vol.44
, pp. 467-473
-
-
Ogilvie, I.1
Pourfarzam, M.2
Jackson, S.3
Stockdale, C.4
Bartlett, K.5
Turnbull, D.M.6
-
13
-
-
0025828342
-
Mitochondrial DNA deletions in inherited recurrent myoglobinuria
-
Ohno K, Tanaka M, Sahashi K, Ibi T, Sato W, Yamamoto T, Takahashi A, Ozawa T: Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 1991;29:364-369.
-
(1991)
Ann Neurol
, vol.29
, pp. 364-369
-
-
Ohno, K.1
Tanaka, M.2
Sahashi, K.3
Ibi, T.4
Sato, W.5
Yamamoto, T.6
Takahashi, A.7
Ozawa, T.8
-
14
-
-
0017758252
-
Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and α-ketoglutarate dehydrogenase complexes): A cause of congenital chronic lactic acidosis in infancy
-
Robinson BH, Taylor J, Sherwood WG: Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and α-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy. Pediatr Res 1977;11:1198-1202.
-
(1977)
Pediatr Res
, vol.11
, pp. 1198-1202
-
-
Robinson, B.H.1
Taylor, J.2
Sherwood, W.G.3
|