Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Autor: Olsen, R. K., Konarikova, E., Giancaspero, T. A., Mosegaard, S., Boczonadi, V., Matakovic, L., Veauville-Merllie, A., Terrile, C., Schwarzmayr, T., Haack, T. B., Auranen, M., Leone, P., Galluccio, M., Imbard, A., Gutierrez-Rios, P., Palmfeldt, J., Graf, E., Vianey-Saban, Christine, Oppenheim, M., Schiff, M., Pichard, S., Rigal, O., Pyle, A., Chinnery, P. F., Konstantopoulou, V., Moslinger, D., Feichtinger, R. G., Talim, B., Topaloglu, H., Coskun, T., Gucer, S., Botta, A., Pegoraro, E., Malena, A., Vergani, L., Mazza, D., Zollino, M., Ghezzi, D., Acquaviva, C., Tyni, T., Boneh, A., Meitinger, T., Strom, T. M., Gregersen, N., Mayr, J. A., Horvath, R., Barile, M., Prokisch, H.

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1130-45
Am. J. Hum. Genet. 98, 1130-1145 (2016)
Olsen, R K J, Koňaříková, E, Giancaspero, T A, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, T B, Auranen, M, Leone, P, Galluccio, M, Imbard, A, Gutierrez-Rios, P, Palmfeldt, J, Graf, E, Vianey-Saban, C, Oppenheim, M, Schiff, M, Pichard, S, Rigal, O, Pyle, A, Chinnery, P F, Konstantopoulou, V, Möslinger, D, Feichtinger, R G, Talim, B, Topaloglu, H, Coskun, T, Gucer, S, Botta, A, Pegoraro, E, Malena, A, Vergani, L, Mazzà, D, Zollino, M, Ghezzi, D, Acquaviva, C, Tyni, T, Boneh, A, Meitinger, T, Strom, T M, Gregersen, N, Mayr, J A, Horvath, R, Barile, M & Prokisch, H 2016, ' Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency ', American Journal of Human Genetics, vol. 98, no. 6, pp. 1130-45 . https://doi.org/10.1016/j.ajhg.2016.04.006

International audience; 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 genet

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https://hal.archives-ouvertes.fr/hal-01850412

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Trapping Of Hydride Forming Elements Within Miniature Electrothermal Devices: Part 1. Investigation Of Collection Of Arsenic And Selenium Hydrides On A Molybdenum Foil Strip

Autor: Docekal, B, Gucer, S, Selecka, A

The interaction of selenium and arsenic hydrides with surface of bare and modified (Pt, Ir and Rh) strips of the molybdenum foil was investigated by atomic absorption spectrometry employing miniature hydrogen diffusion flame as a simple atomizer and

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https://aperta.ulakbim.gov.tr/record/94075

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