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Journal Abstract Search

405 related items for PubMed ID: 30982706

  • 1. Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
    Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T.
    Brain Dev; 2019 Aug; 41(7):638-642. PubMed ID: 30982706
    [Abstract] [Full Text] [Related]

  • 2. Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
    Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM.
    Curr Mol Med; 2019 Aug; 19(7):487-493. PubMed ID: 31418342
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  • 4. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
    Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH.
    Int J Biochem Cell Biol; 2021 Mar; 132():105899. PubMed ID: 33279678
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  • 6. ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.
    Xu J, Li D, Lv J, Xu X, Wen B, Lin P, Liu F, Ji K, Shan J, Li H, Li W, Zhao Y, Zhao D, Pok JY, Yan C.
    Ann Neurol; 2018 Nov; 84(5):659-673. PubMed ID: 30232818
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  • 7. Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.
    Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A.
    Pediatr Neurol; 2019 Oct; 99():69-75. PubMed ID: 31331668
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  • 9. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Law LK, Tang NL, Hui J, Fung SL, Ruiter J, Wanders RJ, Fok TF, Lam CW.
    Clin Chim Acta; 2009 Jun 27; 404(2):95-9. PubMed ID: 19265687
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  • 13. Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.
    Lee YJ, Kim SY, Kim MJ, Kim AR, Lee JM, Chae JH.
    Neuromuscul Disord; 2021 Nov 27; 31(11):1194-1198. PubMed ID: 34454814
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  • 15. Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
    Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, Yamaguchi S, Taketani T.
    Mol Genet Metab Rep; 2022 Dec 27; 33():100940. PubMed ID: 36406819
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  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Prasun P.
    ; 1993 Dec 27. PubMed ID: 32550677
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  • 18. Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
    Wen B, Li D, Li W, Zhao Y, Yan C.
    Neurol Sci; 2015 Jun 27; 36(6):853-9. PubMed ID: 25827849
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  • 19. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
    Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA.
    Brain; 2007 Aug 27; 130(Pt 8):2045-54. PubMed ID: 17584774
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