-
2
-
-
0023248335
-
Short-chain acyt-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients
-
(1987)
J Clin Invest
, vol.79
, pp. 1303-1309
-
-
Amendt, B.A.1
Greene, C.2
Sweetman, L.3
Cloherty, J.4
Shih, V.5
Moon, A.6
Teel, L.7
Rhead, W.J.8
-
8
-
-
6844258223
-
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→s.A, together conferring susceptibility to ethylmalonic aciduria
-
(1998)
Hum Mol Genet
, vol.7
, pp. 619-627
-
-
Gregersen, N.1
Winter, V.S.2
Corydon, M.J.3
Corydon, T.J.4
Rinaldo, P.5
Ribes, A.6
Martinez, G.7
Bennett, M.J.8
Vianey-Saban, C.9
Bhala, A.10
Hale, D.E.11
Lehnert, W.12
Kmoch, S.13
Roig, M.14
Riudor, E.15
Eiberg, H.16
Andresen, B.S.17
Bross, P.18
Bolund, L.A.19
Kølvraa, S.20
more..
-
9
-
-
7144263747
-
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
-
(1998)
Eur J Pediatr
, vol.157
, pp. 317-320
-
-
Ribes, A.1
Riudor, E.2
Garavaglia, B.3
Martinez, G.4
Arranz, A.5
Invernizzi, F.6
Briones, P.7
Lamantea, E.8
Sentis, M.9
Barcelo, A.10
Roig, M.11
-
12
-
-
0024599589
-
Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acylcoenzyme A dehydrogenase deficiency
-
(1989)
J Clin Invest
, vol.83
, pp. 1605-1613
-
-
Naito, E.1
Ozasa, H.2
Ikeda, Y.3
Tanaka, K.4
-
13
-
-
0025325156
-
Identification of two variant short chain acylcoenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency
-
(1990)
J Clin Invest
, vol.85
, pp. 1575-1582
-
-
Naito, E.1
Indo, Y.2
Tanaka, K.3
-
16
-
-
9344226779
-
Ethylmalonic aciduria is associated with an amino acid variant of short-chain acyl-coenzyme A dehydrogenase
-
(1996)
Pediatr Res
, vol.39
, pp. 1059-1966
-
-
Corydon, M.J.1
Gregersen, N.2
Lehnert, W.3
Ribes, A.4
Rinaldo, P.5
Kmoch, S.6
Christensen, E.7
Kristensen, T.J.8
Andresen, B.S.9
Bross, P.10
Winter, V.11
Martinez, G.12
Neve, S.13
Jensen, T.G.14
Bolund, L.15
Koølvraa, S.16
-
18
-
-
0021970335
-
Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme
-
(1985)
J Biol Chem
, vol.260
, pp. 1311-1325
-
-
Ikeda, Y.1
Okamura-Ikeda, K.2
Tanaka, K.3
-
20
-
-
4244103226
-
-
(1997)
Homo sapiens SCAD gene, 5′-UTR and exon 1 to 10 (European Molecular Biology Laboratory/GenBank/DNA Data Bank of Japan; nucleotide sequence database accession no Z80345, Z80347)
-
-
Corydon, M.J.1
Andresen, B.S.2
Bross, P.3
Kjeldsen, M.4
Andreasen, P.H.5
Eiberg, H.6
Kølvraa, S.7
Gregersen, N.8
-
24
-
-
0031541456
-
Structural organization of the human short-chain acyl-CoA dehydrogenase gene
-
(1997)
Mamm Genom
, vol.8
, pp. 922-926
-
-
Corydon, M.J.1
Andresen, B.S.2
Bross, P.3
Kjeldsen, M.4
Andreasen, P.H.5
Eiberg, H.6
Koølvraa, S.7
Gregersen, N.8
-
25
-
-
4244181180
-
Summery table
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York
-
(1995)
-
-
Scriver, C.R.1
-
27
-
-
0032557512
-
Rapid degradation of short-chain acyl-CoA dehydrogenase (SCAD) variants with temperature-sensitive folding defects occur after import into mitochondria
-
(1998)
J Biol Chem
, vol.273
, pp. 13065-13071
-
-
Corydon, T.J.1
Bross, P.2
Jensen, T.G.3
Corydon, M.J.4
Lund, T.B.5
Jensen, U.B.6
Kim, J.-J.7
Gregersen, N.8
Bolund, L.9
-
28
-
-
0028902952
-
Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme
-
(1995)
J Biol Chem
, vol.270
, pp. 10284-10290
-
-
Brass, P.1
Jespersen, C.2
Jensen, T.G.3
Andresen, B.S.4
Kristensen, M.J.5
Winter, V.6
Nandy, A.7
Krautle, F.8
Ghisla, S.9
Bolund, L.10
Kim, J.J.P.11
Gregersen, N.12
-
29
-
-
8244255920
-
The molecular basis of mcdium-chain acyl-CoA degydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype?
-
(1997)
Hum Mol Genet
, vol.6
, pp. 695-707
-
-
Andresen, B.S.1
Bross, P.2
Udvari, S.3
Kirk, J.4
Gray, J.5
Kmoch, S.6
Chamoles, N.7
Knudsen, I.8
Winter, V.9
Wilcken, B.10
Yokota, I.11
Hart, K.12
Packman, S.13
Harpey, J.P.14
Saudubray, J.M.15
Hale, D.E.16
Bolund, L.17
Kølvraa, S.18
Gregersen, N.19
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