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PUBMED FOR HANDHELDS

Journal Abstract Search

149 related items for PubMed ID: 39273584

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  • 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; 19(7):487-493. PubMed ID: 31418342
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  • 11. 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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  • 12. Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
    Ding M, Liu R, Qiubo L, Zhang Y, Kong Q.
    Medicine (Baltimore); 2020 Sep 11; 99(37):e21944. PubMed ID: 32925727
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  • 13. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
    van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck LM, Dercksen M.
    J Neurol Sci; 2018 Jan 15; 384():121-125. PubMed ID: 29249369
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  • 15. A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Chen M, Peng J, Wei W, Wang R, Xu H, Liu H.
    Int J Neurosci; 2018 Mar 15; 128(3):291-294. PubMed ID: 28914566
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  • 17. The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
    Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS.
    Hum Mutat; 2014 Jan 15; 35(1):86-95. PubMed ID: 24123825
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