-
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
-
-
33644519620
-
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene
-
doi: 10.1373/clinchem.2005.062000
-
Das AM, Illsinger S, Lucke T, et al (2006) Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. Clin Chem 52: 530-534. doi: 10.1373/clinchem.2005.062000
-
(2006)
Clin Chem
, vol.52
, pp. 530-534
-
-
Das, A.M.1
Illsinger, S.2
Lucke, T.3
-
3
-
-
0036140895
-
Long-chain 3-hydoxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients
-
doi: 10.1542/peds.109.1.99
-
den Boer ME, Wanders RJ, Morris AA, Ijlst L, Heymans HS, Wijburg FA (2002) Long-chain 3-hydoxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients. Pediatrics 109: 99-104. doi: 10.1542/peds.109.1.99
-
(2002)
Pediatrics
, vol.109
, pp. 99-104
-
-
den Boer, M.E.1
Wanders, R.J.2
Morris, A.A.3
Ijlst, L.4
Heymans, H.S.5
Wijburg, F.A.6
-
4
-
-
0038132933
-
Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement
-
doi: 10.1067/mpd.2003.231
-
den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA (2003) Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr 142: 684-689. doi: 10.1067/mpd.2003.231
-
(2003)
J Pediatr
, vol.142
, pp. 684-689
-
-
den Boer, M.E.1
Dionisi-Vici, C.2
Chakrapani, A.3
van Thuijl, A.O.4
Wanders, R.J.5
Wijburg, F.A.6
-
5
-
-
0003521096
-
-
German/Austrian/Swiss Nutrition Societies (D-A-CH Gesellschaft für Ernährung) 1st edn. Franfurt-am-Main: Umschau/Braus GmbH. ISBN 3-8295-7114-3
-
German/Austrian/Swiss Nutrition Societies (D-A-CH Gesellschaft für Ernährung) (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
-
-
-
6
-
-
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
-
7
-
-
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
-
8
-
-
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
-
9
-
-
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
-
10
-
-
0032531101
-
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
-
doi: 10.1172/JCI2091
-
Ibdah JA, Tein I, Dionisi-Vici C, et al (1998) Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 102: 1193-1199. doi: 10.1172/JCI2091
-
(1998)
J Clin Invest
, vol.102
, pp. 1193-1199
-
-
Ibdah, J.A.1
Tein, I.2
Dionisi-Vici, C.3
-
11
-
-
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, et al (2006) Carnitine supplementation induces long-chain acylcarnitine production-studies in the VLCAD-deficient mouse. J Inherit Metab Dis 29: 343-444. doi: 10.1007/ s10545-006-0249-4
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 343-444
-
-
Liebig, M.1
Gyenes, M.2
Brauers, G.3
-
12
-
-
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
-
13
-
-
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
-
14
-
-
0036071008
-
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
-
Roe CR, Sweetman L, Roe DS, David F, Brunengraber H (2002) Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 110:259-269.
-
(2002)
J Clin Invest
, vol.110
, pp. 259-269
-
-
Roe, C.R.1
Sweetman, L.2
Roe, D.S.3
David, F.4
Brunengraber, H.5
-
15
-
-
36148997325
-
Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders
-
doi: 10.1016/j.ymgme.2007.07.012
-
Roe CR, Roe DS, Wallace M, Garritson B (2007) Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders. Mol Genet Metab 92: 346-350. doi: 10.1016/ j.ymgme.2007.07.012
-
(2007)
Mol Genet Metab
, vol.92
, pp. 346-350
-
-
Roe, C.R.1
Roe, D.S.2
Wallace, M.3
Garritson, B.4
-
16
-
-
19444367222
-
Neonatal screening for defects of the mitochondrial trifunctional protein
-
doi: 10.1016/j.ymgme.2005.02.002
-
Sander J, Sander S, Steuerwald U, et al (2005) Neonatal screening for defects of the mitochondrial trifunctional protein. Mol Genet Metab 85: 108-114. doi: 10.1016/j.ymgme.2005.02.002
-
(2005)
Mol Genet Metab
, vol.85
, pp. 108-114
-
-
Sander, J.1
Sander, S.2
Steuerwald, U.3
-
17
-
-
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
-
18
-
-
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
-
19
-
-
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
-
20
-
-
33751025216
-
Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase -deficient mice
-
doi: 10.1055/s-2006-954581
-
Spiekerkoetter U, Ruiter J, Tokunaga C, et al (2006) Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase -deficient mice. Horm Metab Res 38: 625-630. doi: 10.1055/s-2006-954581
-
(2006)
Horm Metab Res
, vol.38
, pp. 625-630
-
-
Spiekerkoetter, U.1
Ruiter, J.2
Tokunaga, C.3
-
21
-
-
0029976189
-
Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α- and β-subunits
-
Ushikubo S, Aoyama T, Kamijo T, et al (1996) Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α- and β-subunits. Am J Hum Genet 58: 979-988
-
(1996)
Am J Hum Genet
, vol.58
, pp. 979-988
-
-
Ushikubo, S.1
Aoyama, T.2
Kamijo, T.3
-
22
-
-
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
|