PubMed for id: 854382

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37404675,35760926,33965301,33549744,32061778,31629068,31497477,30023301,29476646,27246109,27209629,26453363,26385305,25834949,24330285,19327992,19208414,17457695,17206456,16488171,15210884,15024832,8554073,38390979,38229914,38171561,37873844,37822418,37779023,37671074,37512487,37367883,36893960,36842679,36580829,36356723,36161784,36078043,35532898,35400565,35315035,35281659,35136200,35001339,34485012,34465376,34436479,34194748,33996489,33986768,33597881,33093005,32939699,32928639,32820518,32798077,32669490,32655480,32558070,32518924,32276429,31971349,31955429,31844625,31794763,31394165,31191348,31031081,30993714,30950014,30761551,30740737,30721391,30445591,30401918,30194637,29499131,29316010,28980192,28755359,27995075,27518779,26982752,26937394,26927351,26881790,26743058,26567099,26182500,25887160,25843429,25737446,25655073,25652019,25456746,25338548,25242572,25069536,24801231,24765510,24530811,24503138,24044064,23480858,23430948,23313579,23238219,22847164,22395529,21963783,21932095,21814341,21531094,21429517,21333574,20668464,20640438,20580297,20547398,20444420,20301763,20235487,20107901,20060901,20056241,19649258,19589468,19333779,19157942,19156135,19081279,18980943,18670371,17999356,17514507,16950999,16880373,16860141,16435213,16288870,15293280,14727566,14631745,14611808,14517516,12931630,12893739,12609736,12227461,12213615,11914034,11882234,11596652,11590124,11580910,11158518,11131350,11124787,10790204,10738914,10700700,10529389,10518280,10431122,10407852,10077518,9973285,9877038,9709714,9700596,9565984,9546340,9498103,9329424,8845838,8809347,8422439,8356011,8145917,7583594,7479827,37558007,37549443,36109795,35218577,35076099,33442025,33150772,31028847,30840296,29768383,27884962,27644403,24263034,24158852,21378393,21314018,21151927,20449660,19399638,18720429,18317232,18227065,17374501,17075770,16763897,16621643,16199475,16115821,11433098,9839948,9599005,9461620,8554625,7668252,37960342,36207828,35452749,34704412,34638902,34437764,33917608,33720355,33610471,33448436,33392894,32876899,32710939,32491160,32447334,31814088,31248636,31234015,29588285,29491033,29459657,29192407,28353634,27998764,26589966,26068433,25811481,24206932,24034574,23712021,23639448,23281369,23169530,23076603,22575275,22266990,22093833,21807756,20952238,20883455,20816094,20700461,20538056,20480395,20446112,20425236,20373143,20363655,20083051,20049534,19889959,19639238,19589653,19483197,19452263,19422814,19080473,18760846,18392740,18067086,17904533,17825594,17209005,15862275,15845636,15639194,15368441,15025677,12359260,11524729,10832093,10612827,10607478,10356313,10072889,9545492,8795843,28247148,36639278,35388887,35013270,34258288,34069977,33730333,33495527,33110171,32804429,32389575,32101375,31816412,31479473,31358953,30969842,30588737,30328346,30238259,29739102,29534959,29458021,29361796,29337599,29139060,29095929,29016649,28808064,27697616,27261364,26805879,26240137,26074369,26055255,26016877,25808502,25748450,25728796,25543536,25439725,25416367,25352051,25242319,25035146,24966184,24735966,24647074,24335176,24281896,24121500,23910553,23567053,23400930,23295058,22531495,22479495,22459206,22424738,22325456,22093928,22012855,21950197,21936618,21880953,21741369,21237683,21227726,20864652,20727852,20659813,20522731,20505667,20203611,20163621,20040361,19736549,19255872,19249310,19083141,18786646,18385088,18178847,17711991,17618960,17564966,17352811,16904672,16464760,16297647,16282640,15978974,15902556,15784700,15308124,15271680,14732484,14577613,12880107,12835316,12145175,12118083,12110517,11934849,11914033,11891248,11771124,11736662,11714844,11216903,11108740,11044493,11001791,10982439,10958805,10577999,10342294,10206693,9803880,9802886,9732461,9535763,9488698,9214289,9208949,9201918,9182995,9003458,8823176,8823175,8798418,8784738,8733888,8530022,8276399,8226958,8155643,7971999,6646897,3793932,3469675,2777793,2000272,1945557,1774065,1623263,1594327,24285112,38568384,38516404,38377647,38372965,38187300,38186849,38093447,38015438,38010207,37958242,37867472,37754774,37626534,37280548,36680545,36636595,36430419,36338154,36331231,35531352,35405752,35281663,35267200,35066899,34975527,34944155,34924025,34740033,33725513,33670968,33110664,33105059,33085788,32918993,32793418,32775213,32601637,32509533,32463482,32216101,32190768,32115688,32010688,31845336,31744213,31727937,31655165,31649231,31620161,31372341,31241292,31075382,30881520,30778524,30617651,29946514,29552494,29540318,29519241,29425111,29320098[uid]

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Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.

Singh P, Amaro D, Obi O, Kiran F, Hediger E, Toler TL, Dickson PI, Grange DK. Singh P, et al. JIMD Rep. 2023 Apr 30;64(4):261-264. doi: 10.1002/jmd2.12365. eCollection 2023 Jul. JIMD Rep. 2023. PMID: 37404675 Free PMC article.

Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.

Prew MS, Camara CM, Botzanowski T, Moroco JA, Bloch NB, Levy HR, Seo HS, Dhe-Paganon S, Bird GH, Herce HD, Gygi MA, Escudero S, Wales TE, Engen JR, Walensky LD. Prew MS, et al. Nat Commun. 2022 Jun 27;13(1):3669. doi: 10.1038/s41467-022-31466-2. Nat Commun. 2022. PMID: 35760926 Free PMC article.

Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.

Akar HT, Çağan M, Yıldız Y, Sivri HS. Akar HT, et al. Neuromuscul Disord. 2021 Jun;31(6):566-569. doi: 10.1016/j.nmd.2021.03.015. Epub 2021 Apr 9. Neuromuscul Disord. 2021. PMID: 33965301

Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency.

Lund M, Andersen KG, Heaton R, Hargreaves IP, Gregersen N, Olsen RKJ. Lund M, et al. Biochim Biophys Acta Mol Basis Dis. 2021 Jun 1;1867(6):166100. doi: 10.1016/j.bbadis.2021.166100. Epub 2021 Feb 5. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33549744 Free article.

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.

Knottnerus SJG, Pras-Raves ML, van der Ham M, Ferdinandusse S, Houtkooper RH, Schielen PCJI, Visser G, Wijburg FA, de Sain-van der Velden MGM. Knottnerus SJG, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165725. doi: 10.1016/j.bbadis.2020.165725. Epub 2020 Feb 19. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32061778 Free article.

Impairment of mitochondrial bioenergetics and permeability transition induction caused by major long-chain fatty acids accumulating in VLCAD deficiency in skeletal muscle as potential pathomechanisms of myopathy.

Cecatto C, Amaral AU, Roginski AC, Castilho RF, Wajner M. Cecatto C, et al. Toxicol In Vitro. 2020 Feb;62:104665. doi: 10.1016/j.tiv.2019.104665. Epub 2019 Oct 16. Toxicol In Vitro. 2020. PMID: 31629068

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.

Yamada K, Matsubara K, Matsubara Y, Watanabe A, Kawakami S, Ochi F, Kuwabara K, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T. Yamada K, et al. JIMD Rep. 2019 Jul 17;49(1):17-20. doi: 10.1002/jmd2.12061. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497477 Free PMC article.

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.

Watanabe K, Yamada K, Sameshima K, Yamaguchi S. Watanabe K, et al. Mol Genet Metab Rep. 2018 Apr 13;15:121-123. doi: 10.1016/j.ymgmr.2018.03.007. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023301 Free PMC article.

Metabolite accumulation in VLCAD deficiency markedly disrupts mitochondrial bioenergetics and Ca²⁺ homeostasis in the heart.

Cecatto C, Amaral AU, da Silva JC, Wajner A, Schimit MOV, da Silva LHR, Wajner SM, Zanatta Â, Castilho RF, Wajner M. Cecatto C, et al. FEBS J. 2018 Apr;285(8):1437-1455. doi: 10.1111/febs.14419. Epub 2018 Mar 25. FEBS J. 2018. PMID: 29476646 Free article.

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

Evans M, Andresen BS, Nation J, Boneh A. Evans M, et al. Mol Genet Metab. 2016 Aug;118(4):282-7. doi: 10.1016/j.ymgme.2016.05.012. Epub 2016 May 16. Mol Genet Metab. 2016. PMID: 27246109

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