-
1
-
-
0034866130
-
Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
-
Gregersen N., Andresen B.S., Corydon M.J., Corydon T.J., Olsen R.K., Bolund L., and Bross P. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum. Mutat 18 (2001) 169-189
-
(2001)
Hum. Mutat
, vol.18
, pp. 169-189
-
-
Gregersen, N.1
Andresen, B.S.2
Corydon, M.J.3
Corydon, T.J.4
Olsen, R.K.5
Bolund, L.6
Bross, P.7
-
2
-
-
0003237157
-
Branched chain organic acidurias
-
Scriver C., Beaudet A.L., Sly W., and Valle D. (Eds), McGraw-Hill, New York
-
Sweetman L., and Williams J.D. Branched chain organic acidurias. In: Scriver C., Beaudet A.L., Sly W., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease. Eighth edition (2001), McGraw-Hill, New York 2125-2164
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease. Eighth edition
, pp. 2125-2164
-
-
Sweetman, L.1
Williams, J.D.2
-
3
-
-
0032969056
-
Disorders of mitochondrial fatty acyl-CoA β-oxidation
-
Wanders R.J.A., Vreken P., Den Boer M.E.J., Wijburg F.A., Van Gennip A.H., and IJlst L. Disorders of mitochondrial fatty acyl-CoA β-oxidation. J. Inher. Metab. Dis. 22 (1999) 442-487
-
(1999)
J. Inher. Metab. Dis.
, vol.22
, pp. 442-487
-
-
Wanders, R.J.A.1
Vreken, P.2
Den Boer, M.E.J.3
Wijburg, F.A.4
Van Gennip, A.H.5
IJlst, L.6
-
5
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
-
Andresen B.S., Olpin S., Poorthuis B., Scholte H.R., Vianey-Saban C., Wanders R., Ijlst L., Morris A., Pourfarzam M., Bartlett K., Baumgartner E.R., deKlerk J.B.C., Schroeder L.D., Corydon T.J., Lund H., Winter V., Bross P., Bolund L., and Gregersen N. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am. J. Hum. Genet. 64 (1999) 479-494
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 479-494
-
-
Andresen, B.S.1
Olpin, S.2
Poorthuis, B.3
Scholte, H.R.4
Vianey-Saban, C.5
Wanders, R.6
Ijlst, L.7
Morris, A.8
Pourfarzam, M.9
Bartlett, K.10
Baumgartner, E.R.11
deKlerk, J.B.C.12
Schroeder, L.D.13
Corydon, T.J.14
Lund, H.15
Winter, V.16
Bross, P.17
Bolund, L.18
Gregersen, N.19
-
6
-
-
0028221809
-
Very long-chain acyl coenzyme-A dehydrogenase deficiency presenting with exercise-induced myoglobinuria
-
Ogilvie I., Pourfarzam M., Jackson S., Stockdale C., Bartlett K., and Turnbull D.M. Very long-chain acyl coenzyme-A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 44 (1994) 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
-
7
-
-
0031798837
-
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
-
Smelt A.H., Poorthuis B.J., Onkenhout W., Scholte H.R., Andresen B.S., van Duinen S.G., Gregersen N., and Wintzen A.R. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann. Neurol. 43 (1998) 540-544
-
(1998)
Ann. Neurol.
, vol.43
, pp. 540-544
-
-
Smelt, A.H.1
Poorthuis, B.J.2
Onkenhout, W.3
Scholte, H.R.4
Andresen, B.S.5
van Duinen, S.G.6
Gregersen, N.7
Wintzen, A.R.8
-
8
-
-
25444531436
-
Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids
-
Ensenauer R., He M., Willard J.M., Goetzman E.S., Corydon T.J., Vandahl B.B., Mohsen A.W., Isaya G., and Vockley J. Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids. J. Biol. Chem. 280 (2005) 32309-32310
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 32309-32310
-
-
Ensenauer, R.1
He, M.2
Willard, J.M.3
Goetzman, E.S.4
Corydon, T.J.5
Vandahl, B.B.6
Mohsen, A.W.7
Isaya, G.8
Vockley, J.9
-
9
-
-
0141733065
-
A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase
-
He M., Burghardt T.P., and Vockley J. A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase. J. Biol. Chem. 278 (2003) 37974-37986
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 37974-37986
-
-
He, M.1
Burghardt, T.P.2
Vockley, J.3
-
10
-
-
0037125921
-
Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme
-
Nguyen T., Riggs C., Babovic-Vuksanovic D., Kim Y.S., Carpenter J.F., Burghardt T.P., Gregersen N., and Vockley J. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. Biochemistry 41 (2002) 11126-11133
-
(2002)
Biochemistry
, vol.41
, pp. 11126-11133
-
-
Nguyen, T.1
Riggs, C.2
Babovic-Vuksanovic, D.3
Kim, Y.S.4
Carpenter, J.F.5
Burghardt, T.P.6
Gregersen, N.7
Vockley, J.8
-
11
-
-
0036398014
-
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans
-
Nguyen T.V., Andresen B.S., Corydon T.J., Ghisla S., Abd-El Razik N., Mohsen A.W., Cederbaum S.D., Roe D.S., Roe C.R., Lench N.J., and Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol. Genet. Metab. 77 (2002) 68-79
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 68-79
-
-
Nguyen, T.V.1
Andresen, B.S.2
Corydon, T.J.3
Ghisla, S.4
Abd-El Razik, N.5
Mohsen, A.W.6
Cederbaum, S.D.7
Roe, D.S.8
Roe, C.R.9
Lench, N.J.10
Vockley, J.11
-
12
-
-
0029118352
-
High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli
-
Mohsen A.A., and Vockley J. High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli. Gene 160 (1995) 263-267
-
(1995)
Gene
, vol.160
, pp. 263-267
-
-
Mohsen, A.A.1
Vockley, J.2
-
13
-
-
0029881587
-
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene
-
Andresen B.S., Bross P., Vianeysaban C., Divry P., Zabot M.T., Roe C.R., Nada M.A., Byskov A., Kruse T.A., Neve S., Kristiansen K., Knudsen I., Corydon M.J., and Gregersen N. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum. Mol. Genet. 5 (1996) 461-472
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 461-472
-
-
Andresen, B.S.1
Bross, P.2
Vianeysaban, C.3
Divry, P.4
Zabot, M.T.5
Roe, C.R.6
Nada, M.A.7
Byskov, A.8
Kruse, T.A.9
Neve, S.10
Kristiansen, K.11
Knudsen, I.12
Corydon, M.J.13
Gregersen, N.14
-
14
-
-
0032540533
-
Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane
-
Souri M., Aoyama T., Hoganson G., and Hashimoto T. Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane. FEBS Lett. 426 (1998) 187-190
-
(1998)
FEBS Lett.
, vol.426
, pp. 187-190
-
-
Souri, M.1
Aoyama, T.2
Hoganson, G.3
Hashimoto, T.4
-
15
-
-
3543149006
-
The toxicity of recombinant proteins in Escherichia coli: a comparison of overexpression in BL21(DE3), C41(DE3), and C43(DE3)
-
Dumon-Seignovert L., Cariot G., and Vuillard L. The toxicity of recombinant proteins in Escherichia coli: a comparison of overexpression in BL21(DE3), C41(DE3), and C43(DE3). Protein Expr. Purif. 37 (2004) 203-206
-
(2004)
Protein Expr. Purif.
, vol.37
, pp. 203-206
-
-
Dumon-Seignovert, L.1
Cariot, G.2
Vuillard, L.3
-
16
-
-
0026803385
-
The variant human isovaleryl-CoA dehydrogenase gene responsible for type-II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire 2nd coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors
-
Vockley J., Nagao M., Parimoo B., and Tanaka K. The variant human isovaleryl-CoA dehydrogenase gene responsible for type-II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire 2nd coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors. J. Biol. Chem. 267 (1992) 2494-2501
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 2494-2501
-
-
Vockley, J.1
Nagao, M.2
Parimoo, B.3
Tanaka, K.4
-
17
-
-
0032516429
-
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia
-
Mohsen A.W., Anderson B.D., Volchenboum S.L., Battaile K.P., Tiffany K., Roberts D., Kim J.J., and Vockley J. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry 37 (1998) 10325-10335
-
(1998)
Biochemistry
, vol.37
, pp. 10325-10335
-
-
Mohsen, A.W.1
Anderson, B.D.2
Volchenboum, S.L.3
Battaile, K.P.4
Tiffany, K.5
Roberts, D.6
Kim, J.J.7
Vockley, J.8
-
18
-
-
0032212549
-
Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase
-
Souri M., Aoyama T., Yamaguchi S., and Hashimoto T. Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase. Eur. J. Biochem. 257 (1998) 592-598
-
(1998)
Eur. J. Biochem.
, vol.257
, pp. 592-598
-
-
Souri, M.1
Aoyama, T.2
Yamaguchi, S.3
Hashimoto, T.4
-
19
-
-
0021943592
-
Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts
-
Frerman F.E., and Goodman S.I. Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts. Biochem. Med. 33 (1985) 38-44
-
(1985)
Biochem. Med.
, vol.33
, pp. 38-44
-
-
Frerman, F.E.1
Goodman, S.I.2
-
20
-
-
0021223549
-
Binding of the enzymes of fatty acid beta-oxidation and some related enzymes to pig heart inner mitochondrial membrane
-
Sumegi B., and Srere P.A. Binding of the enzymes of fatty acid beta-oxidation and some related enzymes to pig heart inner mitochondrial membrane. J. Biol. Chem. 259 (1984) 8748-8752
-
(1984)
J. Biol. Chem.
, vol.259
, pp. 8748-8752
-
-
Sumegi, B.1
Srere, P.A.2
-
21
-
-
0033522493
-
Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism
-
Barycki J.J., O'Brien L.K., Bratt J.M., Zhang R.G., Sanishvili R., Strauss A.W., and Banaszak L.J. Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. Biochemistry 38 (1999) 5786-5798
-
(1999)
Biochemistry
, vol.38
, pp. 5786-5798
-
-
Barycki, J.J.1
O'Brien, L.K.2
Bratt, J.M.3
Zhang, R.G.4
Sanishvili, R.5
Strauss, A.W.6
Banaszak, L.J.7
-
22
-
-
0037023717
-
Crystal structure of rat short shain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA; comparison with other acyl-CoA dehydrogenases
-
Battaile K.P., Molin-Case J., Paschke R., Wang M., Bennett D., Vockley J., and Kim J.-J.P. Crystal structure of rat short shain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA; comparison with other acyl-CoA dehydrogenases. J. Biol. Chem. 277 (2002) 12200-12207
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 12200-12207
-
-
Battaile, K.P.1
Molin-Case, J.2
Paschke, R.3
Wang, M.4
Bennett, D.5
Vockley, J.6
Kim, J.-J.P.7
-
23
-
-
0028905236
-
Three-dimensional structure of butyryl-CoA dehydrogenase from Megasphaera esdenii
-
Djordjevic S., Pace C.P., Stankovich M.T., and Kim J.J.P. Three-dimensional structure of butyryl-CoA dehydrogenase from Megasphaera esdenii. Biochemistry 34 (1995) 2163-2171
-
(1995)
Biochemistry
, vol.34
, pp. 2163-2171
-
-
Djordjevic, S.1
Pace, C.P.2
Stankovich, M.T.3
Kim, J.J.P.4
-
24
-
-
0026677052
-
The three dimensional structure of acyl-CoA dehydrogenases
-
Kim J.-J., and Wang M. The three dimensional structure of acyl-CoA dehydrogenases. Prog. Clinical Biol. Res. 375 (1992) 111-126
-
(1992)
Prog. Clinical Biol. Res.
, vol.375
, pp. 111-126
-
-
Kim, J.-J.1
Wang, M.2
-
25
-
-
0001143446
-
Structure of the medium chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution
-
Kim J.-J., and Wu J. Structure of the medium chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution. Proc. Natl. Acad. Sci. USA 84 (1988) 6677-6681
-
(1988)
Proc. Natl. Acad. Sci. USA
, vol.84
, pp. 6677-6681
-
-
Kim, J.-J.1
Wu, J.2
-
26
-
-
0002656718
-
Three dimensional structures of acyl-CoA dehydrogenases: structural basis of substrate specificity
-
Yagi K. (Ed), Walter deGruyter, New York
-
Kim J.-J.P., Wang M., Paschke R., Djordjevic S., Bennett D.W., and Vockley J. Three dimensional structures of acyl-CoA dehydrogenases: structural basis of substrate specificity. In: Yagi K. (Ed). Flavins and Flavoproteins 1993 (1994), Walter deGruyter, New York 273-282
-
(1994)
Flavins and Flavoproteins 1993
, pp. 273-282
-
-
Kim, J.-J.P.1
Wang, M.2
Paschke, R.3
Djordjevic, S.4
Bennett, D.W.5
Vockley, J.6
-
27
-
-
0027304244
-
Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate
-
Kim J.J.P., Wang M., and Paschke R. Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate. Proc. Natl. Acad. Sci. USA 90 (1993) 7523-7527
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 7523-7527
-
-
Kim, J.J.P.1
Wang, M.2
Paschke, R.3
-
28
-
-
0030740677
-
Structure of human isovaleryl-coA dehydrogenase at 2.6 angstrom resolution-basis for substrate specificity
-
Tiffany K.A., Roberts D.L., Wang M., Paschke R., Mohsen A.W.A., Vockley J., and Kim J.J.P. Structure of human isovaleryl-coA dehydrogenase at 2.6 angstrom resolution-basis for substrate specificity. Biochemistry 36 (1997) 8455-8464
-
(1997)
Biochemistry
, vol.36
, pp. 8455-8464
-
-
Tiffany, K.A.1
Roberts, D.L.2
Wang, M.3
Paschke, R.4
Mohsen, A.W.A.5
Vockley, J.6
Kim, J.J.P.7
-
29
-
-
34248529822
-
Structural basis for substrate specificity in acyl-CoA dehydrogenases: What makes isovaleryl-CoA dehydrogenase specific for a branched chain substrate?
-
Tiffany K.D., Wang M., Paschke R., Mohsen A.-W., Vockley J., and Kim J.J. Structural basis for substrate specificity in acyl-CoA dehydrogenases: What makes isovaleryl-CoA dehydrogenase specific for a branched chain substrate?. Flavins and Flavoproteins 1996 (1997) 649-652
-
(1997)
Flavins and Flavoproteins 1996
, pp. 649-652
-
-
Tiffany, K.D.1
Wang, M.2
Paschke, R.3
Mohsen, A.-W.4
Vockley, J.5
Kim, J.J.6
-
30
-
-
0029655912
-
Mutation analysis of very-long-chain acyl-coenzyme a dehydrogenase (VLCAD) deficiency-identification and characterization of mutant Vlcad CDNAS from four patients
-
Souri M., Aoyama T., Orii K., Yamaguchi S., and Hashimoto T. Mutation analysis of very-long-chain acyl-coenzyme a dehydrogenase (VLCAD) deficiency-identification and characterization of mutant Vlcad CDNAS from four patients. Am. J. Hum. Genet. 58 (1996) 97-106
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 97-106
-
-
Souri, M.1
Aoyama, T.2
Orii, K.3
Yamaguchi, S.4
Hashimoto, T.5
-
31
-
-
0032512657
-
Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase
-
Souri M., Aoyama T., Cox G.F., and Hashimoto T. Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase. J. Biol. Chem. 273 (1998) 4227-4231
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 4227-4231
-
-
Souri, M.1
Aoyama, T.2
Cox, G.F.3
Hashimoto, T.4
-
32
-
-
0034029098
-
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
-
Watanabe H., Orii K.E., Fukao T., Song X.Q., Aoyama T., Jlst L I., Ruiter J., Wanders R.J., and Kondo N. Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping. Hum. Mutat. 15 (2000) 430-438
-
(2000)
Hum. Mutat.
, vol.15
, pp. 430-438
-
-
Watanabe, H.1
Orii, K.E.2
Fukao, T.3
Song, X.Q.4
Aoyama, T.5
Jlst L, I.6
Ruiter, J.7
Wanders, R.J.8
Kondo, N.9
-
33
-
-
0008298288
-
Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids
-
Lea W.P., Abbas A.S., Sprecher H., Vockley J., and Schulz H. Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids. Biochim. Biophys. Acta Mol. Cell Biol. Lipids 31 (2000) 2-3
-
(2000)
Biochim. Biophys. Acta Mol. Cell Biol. Lipids
, vol.31
, pp. 2-3
-
-
Lea, W.P.1
Abbas, A.S.2
Sprecher, H.3
Vockley, J.4
Schulz, H.5
-
34
-
-
0026518372
-
Novel fatty acid β-oxidation enzymes in rat liver mitochondria. 1. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase
-
Izai K., Uchida Y., Orii T., Yamamoto S., and Hashimoto T. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. 1. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase. J. Biol. Chem. 267 (1992) 1027-1033
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 1027-1033
-
-
Izai, K.1
Uchida, Y.2
Orii, T.3
Yamamoto, S.4
Hashimoto, T.5
-
35
-
-
0025025196
-
The long-chain acyl-CoA dehydrogenase deficiency
-
Progress in Clinical and Biological Research: Fatty Acid Oxidation. Clinical. Tanaka K., and Coates P.M. (Eds), Alan R. Liss. Inc., New York
-
Hale D.E., Stanley C.A., and Coates P.M. The long-chain acyl-CoA dehydrogenase deficiency. In: Tanaka K., and Coates P.M. (Eds). Progress in Clinical and Biological Research: Fatty Acid Oxidation. Clinical. Biochemical and Molecular Aspects (1990), Alan R. Liss. Inc., New York 303-324
-
(1990)
Biochemical and Molecular Aspects
, pp. 303-324
-
-
Hale, D.E.1
Stanley, C.A.2
Coates, P.M.3
-
36
-
-
0027207327
-
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in 3 patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
-
Yamaguchi S., Indo Y., Coates P.M., Hashimoto T., and Tanaka K. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in 3 patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr. Res. 34 (1993) 111-113
-
(1993)
Pediatr. Res.
, vol.34
, pp. 111-113
-
-
Yamaguchi, S.1
Indo, Y.2
Coates, P.M.3
Hashimoto, T.4
Tanaka, K.5
-
37
-
-
31444447465
-
Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency
-
Voermans N.C., van Engelen B.G., Kluijtmans L.A., Stikkelbroeck N.M., and Hermus A.R. Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency. Am. J. Med. 119 (2006) 176-179
-
(2006)
Am. J. Med.
, vol.119
, pp. 176-179
-
-
Voermans, N.C.1
van Engelen, B.G.2
Kluijtmans, L.A.3
Stikkelbroeck, N.M.4
Hermus, A.R.5
-
38
-
-
33646434808
-
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis
-
Boneh A., Andresen B.S., Gregersen N., Ibrahim M., Tzanakos N., Peters H., Yaplito-Lee J., and Pitt J.J. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol. Genet. Metab. 88 (2006) 166-170
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 166-170
-
-
Boneh, A.1
Andresen, B.S.2
Gregersen, N.3
Ibrahim, M.4
Tzanakos, N.5
Peters, H.6
Yaplito-Lee, J.7
Pitt, J.J.8
-
39
-
-
0141615880
-
Ms/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
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Spiekerkoetter U., Sun B., Zytkovicz T., Wanders R., Strauss A.W., and Wendel U. Ms/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J. Pediatr. 143 (2003) 335-342
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(2003)
J. Pediatr.
, vol.143
, pp. 335-342
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Spiekerkoetter, U.1
Sun, B.2
Zytkovicz, T.3
Wanders, R.4
Strauss, A.W.5
Wendel, U.6
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