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Volumn 33, Issue 5, 2010, Pages 555-561

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; BEZAFIBRATE; CARNITINE; DOCOSAHEXAENOIC ACID; FATTY ACID DERIVATIVE; LONG CHAIN FATTY ACID; MEDIUM CHAIN TRIACYLGLYCEROL; MITOCHONDRIAL PROTEIN; TRIHEPATANOIN; UNCLASSIFIED DRUG;

EID: 77957574072     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9188-1     Document Type: Review
Times cited : (104)

References (39)
  • 1
    • 0033765096 scopus 로고    scopus 로고
    • Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia
    • 1:CAS:528:DC%2BD3cXotV2itrc%3D 10.1067/mpd.2000.108398 11035829
    • C Agostoni N Massetto G Biasucci, et al. 2000 Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia J Pediatr 137 504 509 1:CAS:528:DC%2BD3cXotV2itrc%3D 10.1067/mpd.2000.108398 11035829
    • (2000) J Pediatr , vol.137 , pp. 504-509
    • Agostoni, C.1    Massetto, N.2    Biasucci, G.3
  • 2
    • 60849099038 scopus 로고    scopus 로고
    • Bezafibrate for an inborn mitochondrial beta-oxidation defect
    • 1:CAS:528:DC%2BD1MXitFGnur8%3D 10.1056/NEJMc0806334 19228633
    • JP Bonnefont J Bastin A Behin F Djouadi 2009 Bezafibrate for an inborn mitochondrial beta-oxidation defect N Engl J Med 360 838 840 1:CAS:528:DC%2BD1MXitFGnur8%3D 10.1056/NEJMc0806334 19228633
    • (2009) N Engl J Med , vol.360 , pp. 838-840
    • Bonnefont, J.P.1    Bastin, J.2    Behin, A.3    Djouadi, F.4
  • 3
    • 0024551414 scopus 로고
    • Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
    • 1:CAS:528:DyaL1MXhs1Grs7k%3D 10.1172/JCI113978 2921326
    • PB Corr MH Creer KA Yamada JE Saffitz BE Sobel 1989 Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation J Clin Invest 83 927 936 1:CAS:528:DyaL1MXhs1Grs7k%3D 10.1172/JCI113978 2921326
    • (1989) J Clin Invest , vol.83 , pp. 927-936
    • Corr, P.B.1    Creer, M.H.2    Yamada, K.A.3    Saffitz, J.E.4    Sobel, B.E.5
  • 4
    • 70549113382 scopus 로고    scopus 로고
    • Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency
    • 1:CAS:528:DC%2BD1MXhsVGrtL3L 10.1038/labinvest.2009.86 19736549
    • KB Cox J Liu L Tian S Barnes Q Yang PA Wood 2009 Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency Lab Invest 89 1348 1354 1:CAS:528:DC%2BD1MXhsVGrtL3L 10.1038/labinvest.2009.86 19736549
    • (2009) Lab Invest , vol.89 , pp. 1348-1354
    • Cox, K.B.1    Liu, J.2    Tian, L.3    Barnes, S.4    Yang, Q.5    Wood, P.A.6
  • 5
    • 0141788824 scopus 로고    scopus 로고
    • Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate
    • DOI 10.1203/01.PDR.0000083001.91588.BB
    • F Djouadi JP Bonnefont L Thuillier, et al. 2003 Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate Pediatr Res 54 446 451 1:CAS:528:DC%2BD3sXntlejs70%3D 10.1203/01.PDR.0000083001.91588.BB 12840153 (Pubitemid 37159110)
    • (2003) Pediatric Research , vol.54 , Issue.4 , pp. 446-451
    • Djouadi, F.1    Bonnefont, J.-P.2    Thuillier, L.3    Droin, V.4    Khadom, N.5    Munnich, A.6    Bastin, J.7
  • 6
    • 15944376229 scopus 로고    scopus 로고
    • Peroxisome proliferator activated receptor δ (PPARδ) agonist but not PPARα corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells
    • DOI 10.1210/jc.2004-1936
    • F Djouadi F Aubey D Schlemmer, et al. 2005 Peroxisome proliferator activated receptor delta (PPAR{delta}) agonist but not PPAR{alpha} corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells J Clin Endocrinol Metab 90 1791 1797 1:CAS:528:DC%2BD2MXisVOhur4%3D 10.1210/jc.2004-1936 15613406 (Pubitemid 40464053)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.3 , pp. 1791-1797
    • Djouadi, F.1    Aubey, F.2    Schlemmer, D.3    Bastin, J.4
  • 7
    • 44649201001 scopus 로고    scopus 로고
    • Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A cross-sectional study with long-term follow-up
    • DOI 10.1111/j.1600-0420.2007.01121.x
    • KT Fahnehjelm G Holmstrom L Ying, et al. 2008 Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up Acta Ophthalmol 86 329 337 10.1111/j.1600-0420.2007.01121.x 18162058 (Pubitemid 351790218)
    • (2008) Acta Ophthalmologica , vol.86 , Issue.3 , pp. 329-337
    • Fahnehjelm, K.T.1    Holmstrom, G.2    Ying, L.3    Haglind, C.B.4    Nordenstrom, A.5    Halldin, M.6    Alm, J.7    Nemeth, A.8    Von Dobeln, U.9
  • 9
    • 26244444855 scopus 로고    scopus 로고
    • 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, PII S1096719205001770, ASHG 2005 Meeting Salt Lake City
    • MB Gillingham RG Weleber M Neuringer, et al. 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 1:CAS:528:DC%2BD2MXhtVOksLnJ 10.1016/j.ymgme.2005.06.001 16040264 (Pubitemid 41412168)
    • (2005) Molecular Genetics and Metabolism , vol.86 , Issue.1-2 , pp. 124-133
    • Gillingham, M.B.1    Weleber, R.G.2    Neuringer, M.3    Connor, W.E.4    Mills, M.5    Van Calcar, S.6    Ver Hoeve, J.7    Wolff, J.8    Harding, C.O.9
  • 10
    • 33747011078 scopus 로고    scopus 로고
    • 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, PII S1096719206002174
    • MB Gillingham B Scott D Elliott CO Harding 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 1:CAS:528:DC%2BD28XotlCjsL0%3D 10.1016/j.ymgme.2006.06.004 16876451 (Pubitemid 44205484)
    • (2006) Molecular Genetics and Metabolism , vol.89 , Issue.1-2 , pp. 58-63
    • Gillingham, M.B.1    Scott, B.2    Elliott, D.3    Harding, C.O.4
  • 13
    • 0026480375 scopus 로고
    • Essentiality of dietary omega 3 fatty acids for premature infants: Plasma and red blood cell fatty acid composition
    • 1:CAS:528:DyaK3sXitFGjsg%3D%3D 10.1007/BF02535868 1362792
    • DR Hoffman R Uauy 1992 Essentiality of dietary omega 3 fatty acids for premature infants: plasma and red blood cell fatty acid composition Lipids 27 886 895 1:CAS:528:DyaK3sXitFGjsg%3D%3D 10.1007/BF02535868 1362792
    • (1992) Lipids , vol.27 , pp. 886-895
    • Hoffman, D.R.1    Uauy, R.2
  • 14
    • 33748685033 scopus 로고    scopus 로고
    • Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency
    • DOI 10.1007/s10545-006-0355-3
    • HH Huidenkoper J Schneider T Westphal PM Vaz M Duran FA Wijburg 2006 Prolonged moderate-intensity excercise without and with L-carnitine supplementation in patients with MCAD deficiency J Inherit Metab Dis 29 631 636 10.1007/s10545-006-0355-3 (Pubitemid 44390425)
    • (2006) Journal of Inherited Metabolic Disease , vol.29 , Issue.5 , pp. 631-636
    • Huidekoper, H.H.1    Schneider, J.2    Westphal, T.3    Vaz, F.M.4    Duran, M.5    Wijburg, F.A.6
  • 16
    • 0031827488 scopus 로고    scopus 로고
    • Fat metabolism during exercise: A review-part II: Regulation of metabolism and the effects of training
    • 1:CAS:528:DyaK1cXltFKmsLo%3D 10.1055/s-2007-971921 9721051
    • AE Jeukendrup WH Saris AJ Wagenmakers 1998 Fat metabolism during exercise: a review-part II: regulation of metabolism and the effects of training Int J Sports Med 19 293 302 1:CAS:528:DyaK1cXltFKmsLo%3D 10.1055/s-2007-971921 9721051
    • (1998) Int J Sports Med , vol.19 , pp. 293-302
    • Jeukendrup, A.E.1    Saris, W.H.2    Wagenmakers, A.J.3
  • 17
    • 19444384285 scopus 로고    scopus 로고
    • L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study
    • DOI 10.1007/s10545-005-5262-5
    • PJ Lee EL Harrison MG Jones S Jones JV Leonard RA Chalmers 2005 L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study J Inherit Metab Dis 28 141 152 1:CAS:528:DC%2BD2MXjvFKqsbk%3D 10.1007/s10545-005-5262-5 15877203 (Pubitemid 40723882)
    • (2005) Journal of Inherited Metabolic Disease , vol.28 , Issue.2 , pp. 141-152
    • Lee, P.J.1    Harrison, E.L.2    Jones, M.G.3    Jones, S.4    Leonard, J.V.5    Chalmers, R.A.6
  • 18
    • 34447260730 scopus 로고    scopus 로고
    • Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands
    • 1:STN:280:DC%2BD2szntVagtA%3D%3D 10.1007/s10545-007-0527-9 17417720
    • AM Lund F Joensen DM Hougaard, et al. 2007 Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands J Inherit Metab Dis 30 341 349 1:STN:280:DC%2BD2szntVagtA%3D%3D 10.1007/s10545-007-0527-9 17417720
    • (2007) J Inherit Metab Dis , vol.30 , pp. 341-349
    • Lund, A.M.1    Joensen, F.2    Hougaard, D.M.3
  • 19
    • 70349980694 scopus 로고    scopus 로고
    • Validation of MCADD newborn screening
    • 1:CAS:528:DC%2BD1MXhtlKis7vN 10.1111/j.1399-0004.2009.01217.x 19780764
    • EM Maier J Pongratz AC Muntau, et al. 2009 Validation of MCADD newborn screening Clin Genet 76 179 187 1:CAS:528:DC%2BD1MXhtlKis7vN 10.1111/j.1399-0004.2009.01217.x 19780764
    • (2009) Clin Genet , vol.76 , pp. 179-187
    • Maier, E.M.1    Pongratz, J.2    Muntau, A.C.3
  • 21
    • 45849135292 scopus 로고    scopus 로고
    • Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine
    • 1:CAS:528:DC%2BD1cXlslGqtbs%3D 10.1203/PDR.0b013e31816ff6f0 18317232
    • S Primassin F Ter Veld E Mayatepek U Spiekerkoetter 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 1:CAS:528:DC%2BD1cXlslGqtbs%3D 10.1203/PDR. 0b013e31816ff6f0 18317232
    • (2008) Pediatr Res , vol.63 , pp. 632-637
    • Primassin, S.1    Ter Veld, F.2    Mayatepek, E.3    Spiekerkoetter, U.4
  • 22
    • 0036071008 scopus 로고    scopus 로고
    • Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
    • 1:CAS:528:DC%2BD38XlsVGltr4%3D 12122118
    • CR Roe L Sweetman DS Roe F David H Brunengraber 2002 Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride J Clin Invest 110 259 269 1:CAS:528:DC%2BD38XlsVGltr4%3D 12122118
    • (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
  • 23
    • 50549093513 scopus 로고    scopus 로고
    • Carnitine palmitoyltransferase II deficiency: Successful anaplerotoc diet therapy
    • 1:CAS:528:DC%2BD1cXosFSku7Y%3D 10.1212/01.wnl.0000318283.42961.e9 18645163
    • CR Roe BZ Yang H Brunengraber DS Roe M Wallace BK Garritson 2008 Carnitine palmitoyltransferase II deficiency: successful anaplerotoc diet therapy Neurology 71 260 264 1:CAS:528:DC%2BD1cXosFSku7Y%3D 10.1212/01.wnl. 0000318283.42961.e9 18645163
    • (2008) Neurology , vol.71 , pp. 260-264
    • Roe, C.R.1    Yang, B.Z.2    Brunengraber, H.3    Roe, D.S.4    Wallace, M.5    Garritson, B.K.6
  • 24
    • 0034162869 scopus 로고    scopus 로고
    • Dietary essential fatty acids, long-chain polyunsaturated fatty acids, and visual resolution acuity in healthy fullterm infants: A systematic review
    • DOI 10.1016/S0378-3782(00)00050-5, PII S0378378200000505
    • JP SanGiovanni CS Berkey JT Dwyer GA Colditz 2000 Dietary essential fatty acids, long-chain polyunsaturated fatty acids, and visual resolution acuity in healthy fullterm infants: a systematic review Early Hum Dev 57 165 188 1:CAS:528:DC%2BD3cXitVSrsr4%3D 10.1016/S0378-3782(00)00050-5 10742608 (Pubitemid 30160763)
    • (2000) Early Human Development , vol.57 , Issue.3 , pp. 165-188
    • SanGiovanni, J.P.1    Berkey, C.S.2    Dwyer, J.T.3    Colditz, G.A.4
  • 25
    • 0036370558 scopus 로고    scopus 로고
    • Mouse models for disorders of mitochondrial fatty acid beta-oxidation
    • 1:CAS:528:DC%2BD38XntFGgsL4%3D 11917157
    • AM Schuler PA Wood 2002 Mouse models for disorders of mitochondrial fatty acid beta-oxidation ILAR J 43 57 65 1:CAS:528:DC%2BD38XntFGgsL4%3D 11917157
    • (2002) ILAR J , vol.43 , pp. 57-65
    • Schuler, A.M.1    Wood, P.A.2
  • 26
    • 0141615880 scopus 로고    scopus 로고
    • MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency
    • U Spiekerkoetter B Sun T Zytkovicz R Wanders AW Strauss U Wendel 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency J Pediatr 43 335 342
    • (2003) J Pediatr , vol.43 , pp. 335-342
    • Spiekerkoetter, U.1    Sun, B.2    Zytkovicz, T.3    Wanders, R.4    Strauss, A.W.5    Wendel, U.6
  • 27
    • 0141615880 scopus 로고    scopus 로고
    • 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
    • U Spiekerkoetter B Sun T Zytkovicz R Wanders AW Strauss U Wendel 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very long-chain acyl-CoA dehydrogenase deficiency J Pediatr 143 335 342 10.1067/S0022-3476(03)00292-0 14517516 (Pubitemid 37188318)
    • (2003) Journal of Pediatrics , vol.143 , Issue.3 , pp. 335-342
    • Spiekerkoetter, U.1    Sun, B.2    Zytkovicz, T.3    Wanders, R.4    Strauss, A.W.5    Wendel, U.6
  • 28
    • 0042745435 scopus 로고    scopus 로고
    • Cardiomyopathy and pericardial effusion in infancy point to a fatty acid β-oxidation defect after exclusion of an underlying infection
    • DOI 10.1007/s00246-002-0277-2
    • U Spiekerkoetter T Tenenbaum A Heusch U Wendel 2003 Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection Pediatr Cardiol 24 295 297 1:STN:280:DC%2BD3s3mt12mtQ%3D%3D 10.1007/s00246-002-0277-2 12457256 (Pubitemid 36920019)
    • (2003) Pediatric Cardiology , vol.24 , Issue.3 , pp. 295-297
    • Spiekerkoetter, U.1    Tenenbaum, T.2    Heusch, A.3    Wendel, U.4
  • 29
    • 1642474359 scopus 로고    scopus 로고
    • General Mitochondrial Trifunctional Protein (TFP) Deficiency As A Result of Either α- or β-Subunit Mutations Exhibits Similar Phenotypes because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover
    • DOI 10.1203/01.PDR.0000103931.80055.06
    • U Spiekerkoetter Z Khuchua Z Yue MJ Bennett AW Strauss 2004 General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover Pediatr Res 55 190 196 1:CAS:528:DC%2BD2cXjsl2ltQ%3D%3D 10.1203/01.PDR.0000103931.80055.06 14630990 (Pubitemid 38120994)
    • (2004) Pediatric Research , vol.55 , Issue.2 , pp. 190-196
    • Spiekerkoetter, U.1    Khuchua, Z.2    Yue, Z.3    Bennett, M.J.4    Strauss, A.W.5
  • 30
    • 2942627696 scopus 로고    scopus 로고
    • The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement
    • DOI 10.1023/B:BOLI.0000028839.57386.88
    • U Spiekerkoetter Z Khuchua Z Yue AW Strauss 2004 The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement J Inherit Metab Dis 27 294 296 1:CAS:528:DC%2BD2cXkt1Sqtrs%3D 10.1023/B:BOLI.0000028839.57386.88 (Pubitemid 38756349)
    • (2004) Journal of Inherited Metabolic Disease , vol.27 , Issue.2 , pp. 294-296
    • Spiekerkoetter, U.1    Khuchua, Z.2    Yue, Z.3    Strauss, A.W.4
  • 32
    • 46749127697 scopus 로고    scopus 로고
    • Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency
    • 1:CAS:528:DC%2BD1cXosVOntbY%3D 10.1016/j.ymgme.2008.04.002 18485779
    • U Spiekerkoetter M Mueller E Cloppenburg, et al. 2008 Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency Mol Genet Metab 94 428 430 1:CAS:528:DC%2BD1cXosVOntbY%3D 10.1016/j.ymgme.2008.04.002 18485779
    • (2008) Mol Genet Metab , vol.94 , pp. 428-430
    • Spiekerkoetter, U.1    Mueller, M.2    Cloppenburg, E.3
  • 33
    • 69449095345 scopus 로고    scopus 로고
    • Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: Results from a workshop
    • 1:STN:280:DC%2BD1MrkslSluw%3D%3D 10.1007/s10545-009-1125-9 19399638
    • U Spiekerkoetter M Lindner R Santer, et al. 2009 Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop J Inherit Metab Dis 32 488 497 1:STN:280:DC%2BD1MrkslSluw%3D%3D 10.1007/s10545-009-1125-9 19399638
    • (2009) J Inherit Metab Dis , vol.32 , pp. 488-497
    • Spiekerkoetter, U.1    Lindner, M.2    Santer, R.3
  • 34
    • 69449103722 scopus 로고    scopus 로고
    • Treatment recommendations in long-chain fatty acid oxidation defects: Consensus from a workshop
    • 1:STN:280:DC%2BD1MrkslWnug%3D%3D 10.1007/s10545-009-1126-8 19452263
    • U Spiekerkoetter M Lindner R Santer, et al. 2009 Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop J Inherit Metab Dis 32 498 505 1:STN:280:DC%2BD1MrkslWnug%3D%3D 10.1007/s10545-009-1126-8 19452263
    • (2009) J Inherit Metab Dis , vol.32 , pp. 498-505
    • Spiekerkoetter, U.1    Lindner, M.2    Santer, R.3
  • 35
    • 26844431513 scopus 로고    scopus 로고
    • Dual and pan-peroxisome proliferator-activated receptors (PPAR) co-agonism: The bezafibrate lessons
    • DOI 10.1186/1475-2840-4-14
    • A Tenenbaum M Motro EZ Fisman 2005 Dual and pan-peroxisome proliferator-activated receptors (PPAR) co-agonism: the bezafibrate lessons Cardiovasc Diabetol 4 14 19 10.1186/1475-2840-4-14 16168052 (Pubitemid 41461006)
    • (2005) Cardiovascular Diabetology , vol.4 , pp. 14
    • Tenenbaum, A.1    Motro, M.2    Fisman, E.Z.3
  • 36
    • 0038042475 scopus 로고    scopus 로고
    • L-carnitine in inborn errors of metabolism: What is the evidence?
    • JH Walter 2005 L-carnitine in inborn errors of metabolism: what is the evidence? J Inherit Metab Dis 26 2-3 181 188
    • (2005) J Inherit Metab Dis , vol.26 , Issue.23 , pp. 181-188
    • Walter, J.H.1
  • 38
    • 33845897373 scopus 로고    scopus 로고
    • Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study
    • DOI 10.1016/S0140-6736(07)60029-4, PII S0140673607600294
    • B Wilcken M Haas P Joy, et al. 2007 Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study Lancet 369 37 42 1:CAS:528:DC%2BD2sXit12itw%3D%3D 10.1016/S0140-6736(07)60029-4 17208640 (Pubitemid 46027226)
    • (2007) Lancet , vol.369 , Issue.9555 , pp. 37-42
    • Wilcken, B.1    Haas, M.2    Joy, P.3    Wiley, V.4    Chaplin, M.5    Black, C.6    Fletcher, J.7    McGill, J.8    Boneh, A.9
  • 39
    • 0038042472 scopus 로고    scopus 로고
    • Treatment of carnitine deficiency
    • 1:CAS:528:DC%2BD3sXkvVCku7s%3D 10.1023/A:1024433100257 12889658
    • SC Winter 2003 Treatment of carnitine deficiency J Inherit Metab Dis 26 171 180 1:CAS:528:DC%2BD3sXkvVCku7s%3D 10.1023/A:1024433100257 12889658
    • (2003) J Inherit Metab Dis , vol.26 , pp. 171-180
    • Winter, S.C.1


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