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11524729,15862275,8650121,24206932,8446424,1363805,9266222,15589119,15347768,16115821,3318304,19589653,7652482,20207594,8466512,10490047,1594327,3892650,18227065,23024820,14728674,15358373,10356313,8102510,16950999,12125906,15845636,11134486,10790204,16617370,11400780,24158852,10529389,17458872,15171999,10352164,15142659,3046055,7145511,1570195,7769092,1438394,15466077,18406615,11216903,9702916,21377632,9667375,27927213,10767181,15638818,1945557,2718899,12815589,1539377,19649258,3786030,25111118,7603790,15365988,7829081,15639194,8554625,12014007,15617873,22847164,25843429,21325261,33150772,18714517,15559414,25737446,9590088,1737072,7929823,15850553,11914033,19422814,10572901,12110517,11771124,8276399,17442290,26284828,23764392,8530533,20373143,1438381,11101700,10709668,8952487,16291504,15193981,15927499,8535441,20449660,19728970,10913960,1962058,20532823,17519422,1635815,8135611,1601002,9802886,10407780,10679947,11590124,24648546,19327992,9590087,30401918,12013983,1438390,10608324,11917157,18836889,7698750,12084849,28532786,2326304,9158144,1775146,20151199,20816094,8576570,8284112,1359563,3065601,1684086,11745037,2774489,24685553,23155713,29317722,3793932,10072889,23053472,8325633,12385891,9599005,11580910,10388343,8134205,25503862,12013982,9469249,9973285,24966162,21630065,20036593,10709667,24485985,26589966,1438380,7601336,8099254,9201918,20376488,20429031,2326314,7586519,26223887,9185222,8446423,8590228,1594328,27466294,9160189,26385305,19592060,2326316,32876899,7988014,8682492,6857268,18977676,2326301,28927828,34437764,28247148,23810226,9498103,11001809,19208414,20434380,9622496,26110041,8470910,8845838,32446361,19926542,12013827,9882619,9350306,35218577,1692038,27751224,33725513,17999356,21500142,7551821,1623263,23807318,10077518,17564966,30194637,8725270,9848022,23028790,11001791,7957387,2326315,1793560,7564261,11158518,9714723,2109149,7740006,10384387,9308370,29519241,1438387,24801231,31620161,31120904,2326296,8347379,20049534,36109795,7904584,3270863,8518011,2279505,8973539,1359564,16121256,32710939,7551818,18392740,20371198,16409126,23829193,9477967,6434841,31234015,11102558,2208722,1793614,8346883,19126203,2326302,16020546,1438357,30031688,2326298,20107901,11462373,9068586,10709660,10832093,12013828,29237229,8422439,31394165,3619569,21156023,23867825,2183236,8198141,21483766,17656140,9839948,2565344,35076099,9582344,17374501,32045933,1769118,20060901,1931995,9285781,24263034,9383286,2347356,27884962,1731887,20066495,8051939,1474157,20532824,19064330,27051597,27976856,11356167,2502671,7494405,34465376,10947209,2054391,24531926,12359260,9499414,1424161,9550560,11826276,7988059,12682048,34069977,33917608,4064333,7785942,8461026,21968293,23095120,12457256,2059253,7479827,36331231,3393393,1770782,2393404,1873916,12213615,9787098,16763897,14506246,9590085,27871288,36580829,10342294,20842433,15337167,36292732,11171198,34638902,8581639,30445591,22796001,10923046,23622388,11045847,20043225,22459206,9487154,10384388,18769256,24516071,11241049,23933733,7966191,25620159,27246109,19691901,25451272,22630369,10384389,9630673,36078043,7822275,8809347,1779611,19465148,10477427,23509891,21237683,22030098,12061367,20490924,11750281,3181618,12208138,8921384,16950638,24535904,7923814,8838477,8447275,9810593,8803790,23117082,2808399,1438402,14707514,25242319,25721401,8194560,9932958,10700700,8661694,2658223,26051273,7837761,15479234,24591516,8133663,7668252,7967471,18523805,20363655,8145917,10590599,10528313,8003473,17514507,10708405,2326289,35066899,32276429,9176224,7172449,27943070,15567346,17685006,33973257,29361796,7917465,9804184,16880373,28516284,1431593,23966064,36972207,2326312,10407852,7960502,33549404,26992026,9852194,15777202,19452263,35760926,1975917,11108740,3270864,2742940,3185637,1382617,20824345,21814341,21333574,18045290,24850141,20830526,19952864,10327278,12014008,15845637,22097235,11180241,16470778,3326728,20659813,8279487,10947197,24635911,20195903,14739684,1756601,19255872,1972503,1770781,8615829,31937333,31215835,10737439,36356723,1447668,9545492,10612827,29491033,10431122,15560374,2083727,36549199,12971426,1434512,8356216,32809672,28120165,2718890,8598638,8374203,31240164,8666240,28980192,12638938,11229423,29459657,12032035,8056419,11686503,3571488,20503433,12013829,19639238,28374236,3370837,2066862,2808706,3270861,7564254,1968047,33720355,25416367,12727399,12135806,10649496,3042086,10496972,22386849,32253862,18539996,9621764,7671954,21170680,30253142,26567099,7668247,11325910,29499131,25925575,26933443,11801395,24718418,20480395,31601874,34039636,2053798,36209296,8114864,10909823,10709659,27553474,12872838,17186412,24281896,1113828,29563254,27995075,11339654,8379909,32655480,28018444,10738914,29369593,11045831,2509809,9345900,29337599,11203731,36810848,26045367,9568246,14728672,25981666,26161441,26798524,33329744,3944684,19889959,8503445,21275107,20443061,12872841,23674167,28529009,36639278,29930765,12394635,32389575,33989779,28955973,31399326,22526845,19167255,7951672,27536022,33301490,22091399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Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P. Gregersen N, et al. Hum Mutat. 2001 Sep;18(3):169-89. doi: 10.1002/humu.1174. Hum Mutat. 2001. PMID: 11524729 Review.

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA. Schuler AM, et al. Mol Genet Metab. 2005 May;85(1):7-11. doi: 10.1016/j.ymgme.2004.09.006. Epub 2005 Feb 16. Mol Genet Metab. 2005. PMID: 15862275

Prenatal diagnosis of mitochondrial fatty acid oxidation defects.

Nada MA, Vianey-Saban C, Roe CR, Ding JH, Mathieu M, Wappner RS, Bialer MG, McGlynn JA, Mandon G. Nada MA, et al. Prenat Diagn. 1996 Feb;16(2):117-24. doi: 10.1002/(SICI)1097-0223(199602)16:2<117::AID-PD820>3.0.CO;2-Z. Prenat Diagn. 1996. PMID: 8650121

Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?

Olsen RK, Cornelius N, Gregersen N. Olsen RK, et al. Mol Genet Metab. 2013;110 Suppl:S31-9. doi: 10.1016/j.ymgme.2013.10.007. Epub 2013 Oct 12. Mol Genet Metab. 2013. PMID: 24206932 Review.

Diagnosis of mitochondrial fatty acid oxidation defects.

Duran M, Bruinvis L, Ketting D, Dorland L. Duran M, et al. Padiatr Padol. 1993;28(1):19-25. Padiatr Padol. 1993. PMID: 8446424 Review.

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z, Gregersen N, Andresen BS, Matsubara Y, Curtis D, et al. Tanaka K, et al. Hum Mutat. 1992;1(4):271-9. doi: 10.1002/humu.1380010402. Hum Mutat. 1992. PMID: 1363805 Review.

In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.

Jakobs C, Kneer J, Martin D, Boulloche J, Brivet M, Poll-The BT, Saudubray JM. Jakobs C, et al. Eur J Pediatr. 1997 Aug;156 Suppl 1:S78-82. Eur J Pediatr. 1997. PMID: 9266222

Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation.

Schuler AM, Gower BA, Matern D, Rinaldo P, Wood PA. Schuler AM, et al. Mol Genet Metab. 2004 Dec;83(4):322-9. doi: 10.1016/j.ymgme.2004.08.010. Mol Genet Metab. 2004. PMID: 15589119

Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Tyni T, Paetau A, Strauss AW, Middleton B, Kivelä T. Tyni T, et al. Pediatr Res. 2004 Nov;56(5):744-50. doi: 10.1203/01.PDR.0000141967.52759.83. Epub 2004 Sep 3. Pediatr Res. 2004. PMID: 15347768

Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.

Djouadi F, Aubey F, Schlemmer D, Ruiter JP, Wanders RJ, Strauss AW, Bastin J. Djouadi F, et al. Hum Mol Genet. 2005 Sep 15;14(18):2695-703. doi: 10.1093/hmg/ddi303. Epub 2005 Aug 22. Hum Mol Genet. 2005. PMID: 16115821

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