TY  -  
T1  - Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 
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UR  - http://hdl.handle.net/10138/224053 
T3  -  
A1  - Olsen, Rikke K. J.; Konarikova, Eliska; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Matakovic, Lavinija; Veauville-Merllie, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez-Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey-Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Moslinger, Dorothea; Feichtinger, Rene G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza, Daniela; Zollino, Marcella; Ghezzi, Daniele; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger 
A2  -  
PB  -  
Y1  - 2016 
LA  - eng 
AB  - Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in FLAD1, which encodes FAD synthase (FADS), as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries. In... 
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KW  - ELECTRON-TRANSFER FLAVOPROTEIN; VIALETTO-VAN LAERE; OVER-EXPRESSION; FUNCTIONAL-CHARACTERIZATION; ESCHERICHIA-COLI; ISOFORM 2; MITOCHONDRIA; DISEASE; SYNTHETASE; COFACTORS; 3111 Biomedicine 
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