-
1
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very long-chain acyl-CoA dehydrogenase deficiency
-
doi: 10.1086/302261
-
Andresen BS, Olpin S, Poorthuis BJ, et al (1999) Clear correlation of genotype with disease phenotype in very long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: 479-494. doi: 10.1086/302261
-
(1999)
Am J Hum Genet
, vol.64
, pp. 479-494
-
-
Andresen, B.S.1
Olpin, S.2
Poorthuis, B.J.3
-
2
-
-
0003521096
-
-
German?Austrian/Swiss Nutrition Societies 1st edn. Franfurt-am-Main: Umschau/Braus GmbH. ISBN 3-8295-7114-3
-
German?Austrian/Swiss Nutrition Societies (2000) Die Referenzwerte für die Nährstoffzufuhr, 1st edn. Franfurt-am-Main: Umschau/ Braus GmbH. ISBN 3-8295-7114-3
-
(2000)
Die Referenzwerte Für Die Nährstoffzufuhr
-
-
-
3
-
-
26244444855
-
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency
-
doi: 10.1016/j.ymgme.2005.06.001
-
Gillingham MB, Weleber RG, Neuringer M (2005) Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genet Metab 86: 124-133. doi: 10.1016/j.ymgme.2005.06.001
-
(2005)
Mol Genet Metab
, vol.86
, pp. 124-133
-
-
Gillingham, M.B.1
Weleber, R.G.2
Neuringer, M.3
-
4
-
-
33747011078
-
Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency
-
doi: 10.1016/j.ymgme.2006.06.004
-
Gillingham MB, Scott B, Elliott D, Harding CO (2006) Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab 89: 58-63. doi: 10.1016/j.ymgme.2006.06.004
-
(2006)
Mol Genet Metab
, vol.89
, pp. 58-63
-
-
Gillingham, M.B.1
Scott, B.2
Elliott, D.3
Harding, C.O.4
-
5
-
-
33845267762
-
Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency
-
doi: 10.1016/j.ymgme.2006.08.002
-
Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO (2007) Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab 90: 64-69. doi: 10.1016/j.ymgme.2006.08.002
-
(2007)
Mol Genet Metab
, vol.90
, pp. 64-69
-
-
Gillingham, M.B.1
Purnell, J.Q.2
Jordan, J.3
Stadler, D.4
Haqq, A.M.5
Harding, C.O.6
-
6
-
-
36748999442
-
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: Toward a genotype-based therapy
-
doi: 10.1086/522375
-
Gobin-Limballe S, Djouadi F, Aubey F (2007) Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: Toward a genotype-based therapy. Am J Hum Genet 81: 1133-1143. doi: 10.1086/522375
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1133-1143
-
-
Gobin-Limballe, S.1
Djouadi, F.2
Aubey, F.3
-
7
-
-
0034866130
-
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
-
doi: 10.1002/humu.1174
-
Gregersen N, Andresen BS, Corydon MJ, et al (2001) Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 18: 169-189. doi: 10.1002/humu.1174
-
(2001)
Hum Mutat
, vol.18
, pp. 169-189
-
-
Gregersen, N.1
Andresen, B.S.2
Corydon, M.J.3
-
8
-
-
0842330592
-
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships
-
doi: 10.1046/j.1432-1033.2003.03949.x
-
Gregersen N, Bross P, Andresen BS, et al (2004) Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships. Eur J Biochem 271: 470-482. doi: 10.1046/j.1432-1033.2003.03949.x
-
(2004)
Eur J Biochem
, vol.271
, pp. 470-482
-
-
Gregersen, N.1
Bross, P.2
Andresen, B.S.3
-
9
-
-
33745067235
-
Carnitine supplementation induces long-chain acylcarnitine production - Studies in the VLCAD-deficient mouse
-
doi: 10.1007/s10545-006-0249-4
-
Liebig M, Gyenes M, Brauers G (2006) Carnitine supplementation induces long-chain acylcarnitine production - studies in the VLCAD-deficient mouse. J Inherit Metab Dis 29: 343-344. doi: 10.1007/s10545-006-0249-4
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 343-344
-
-
Liebig, M.1
Gyenes, M.2
Brauers, G.3
-
10
-
-
3843151500
-
Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency
-
doi: 10.1002/ana.20168
-
Ørngreen MC, Nørgaard MG, Sacchetti M, van Engelen BG, Vissing J (2004) Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency. Ann Neurol 56: 279-283. doi: 10.1002/ ana.20168
-
(2004)
Ann Neurol
, vol.56
, pp. 279-283
-
-
Ørngreen, M.C.1
Nørgaard, M.G.2
Sacchetti, M.3
van Engelen, B.G.4
Vissing, J.5
-
11
-
-
45849135292
-
Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine
-
doi: 10.1203/PDR.0b013e31816ff6f0
-
Primassin S, Ter Veld F, Mayatepek E, Spiekerkoetter U (2008) Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine. Pediatr Res 63: 632-637. doi: 10.1203/ PDR.0b013e31816ff6f0
-
(2008)
Pediatr Res
, vol.63
, pp. 632-637
-
-
Primassin, S.1
Ter Veld, F.2
Mayatepek, E.3
Spiekerkoetter, U.4
-
12
-
-
0033004986
-
Recognition and management of fatty acid oxidation defects: A series of 107 patients
-
doi: 10.1023/A:1005556207210
-
Saudubray JM, Martin D, de Lonlay P, et al (1999) Recognition and management of fatty acid oxidation defects: A series of 107 patients. J Inherit Metab Dis 22: 488-502. doi: 10.1023/A:1005556207210
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 488-502
-
-
Saudubray, J.M.1
Martin, D.2
de Lonlay, P.3
-
13
-
-
0036884407
-
Management of fatty acid oxidation disorders: A survey of current treatment strategies
-
doi: 10.1016/S0002-8223(02)90386-X
-
Solis JO, Singh RH (2002) Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc 102: 1800-1803. doi: 10.1016/S0002-8223(02)90386-X
-
(2002)
J Am Diet Assoc
, vol.102
, pp. 1800-1803
-
-
Solis, J.O.1
Singh, R.H.2
-
14
-
-
34548015223
-
Effects of a fat load and exercise on asymptomatic VLCAD deficiency
-
doi: 10.1007/s10545-007-0548-4
-
Spiekerkoetter U (2007) Effects of a fat load and exercise on asymptomatic VLCAD deficiency. J Inherit Metab Dis 30: 405. doi: 10.1007/ s10545-007-0548-4
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 405
-
-
Spiekerkoetter, U.1
-
15
-
-
0141615880
-
MS/MS-based newborn and family screening detects asymptomatic patients with very long-chain acyl-CoA dehydrogenase deficiency
-
doi: 10.1067/S0022-3476(03)00292-0
-
Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U (2003) MS/MS-based newborn and family screening detects asymptomatic patients with very long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143: 335-342. doi: 10.1067/S0022-3476(03)00292-0
-
(2003)
J Pediatr
, vol.143
, pp. 335-342
-
-
Spiekerkoetter, U.1
Sun, B.2
Zytkovicz, T.3
Wanders, R.4
Strauss, A.W.5
Wendel, U.6
-
16
-
-
0347361626
-
Peripheral neuropathy, episodic myoglobinuria and respiratory failure in deficiency of the mitochondrial trifunctional protein
-
doi: 10.1002/mus.10500
-
Spiekerkoetter U, Bennett MJ, BenZe'ev B, Strauss AW, Tein I (2004) Peripheral neuropathy, episodic myoglobinuria and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 29: 66-72. doi: 10.1002/mus.10500
-
(2004)
Muscle Nerve
, vol.29
, pp. 66-72
-
-
Spiekerkoetter, U.1
Bennett, M.J.2
BenZe'ev, B.3
Strauss, A.W.4
Tein, I.5
-
17
-
-
69449095345
-
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: Results from a workshop
-
doi: 10.1007/s10545-009-1125-9
-
Spiekerkoetter U, Lindner M, Santer R, et al (2009) Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. doi: 10.1007/ s10545-009-1125-9
-
(2009)
J Inherit Metab Dis
-
-
Spiekerkoetter, U.1
Lindner, M.2
Santer, R.3
-
18
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
doi: 10.1056/NEJMoa025225
-
Wilcken B, Wiley V, Hammond J, et al (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304-2312. doi: 10.1056/NEJMoa025225
-
(2003)
N Engl J Med
, vol.348
, pp. 2304-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
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