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multiple acyl-Coa dehydrogenase deficiency相关文献:
Multiple Acyl-CoA Dehydrogenase Deficiency.
Prasun P.
2020 Jun 18. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:32550677
Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Ibrahim SY, Vaqar S, Temtem T.
2024 Feb 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:32809672
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.
Brandão SR, Ferreira R, Rocha H.
Arch Physiol Biochem. 2021 Jun;127(3):210-216. doi: 10.1080/13813455.2019.1628065. Epub 2019 Jun 19.
PMID:31215835
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.
Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.
PMID:26385305
Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis After Gastrointestinal Endoscopy.
Liu RR, Han Q, Ma L.
J Clin Neurol. 2023 Jul;19(4):419-421. doi: 10.3988/jcn.2022.0304.
PMID:37417440
New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings.
Missaglia S.
J Neurol Sci. 2023 Dec 15;455:122809. doi: 10.1016/j.jns.2023.122809. Epub 2023 Nov 28.
PMID:38040566
Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.
Zhou D, Ye M, Hu Z, Zhang Y, Zhu L, Yang R, Huang X.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug 25;50(4):454-462. doi: 10.3724/zdxbyxb-2021-0261.
PMID:34704421
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P.
J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29.
PMID:31997039
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.
Gramer G, Hoffmann GF, Hennermann JB.
Mol Genet Metab Rep. 2021 Mar 6;27:100738. doi: 10.1016/j.ymgmr.2021.100738. eCollection 2021 Jun.
PMID:33732619
Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly.
Nana Sede Mbakop R, Forlemu AN, Manatsathit W.
ACG Case Rep J. 2023 May 6;10(5):e01036. doi: 10.14309/crj.0000000000001036. eCollection 2023 May.
PMID:37168503
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