换一批Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
第一作者：
Olsen, Rikke K. J.
作者：
Olsen, Rikke K. J. [1]
;
Konarikova, Eliska [2]
;
Giancaspero, Teresa A. [3]
;
Mosegaard, Signe [4]
;
Boczonadi, Veronika [5]
;
Matakovic, Lavinija [6]
;
Veauville-Merllie, Alice [7]
;
Terrile, Caterina [8]
;
Schwarzmayr, Thomas [9]
;
Haack, Tobias B. [10]
;
Auranen, Mari [11]
;
Leone, Piero [12]
;
Galluccio, Michele [13]
;
Imbard, Apolline [14]
;
Gutierrez-Rios, Purificacion [15]
;
Palmfeldt, Johan [16]
;
Graf, Elisabeth [17]
;
Vianey-Saban, Christine [18]
;
Oppenheim, Marcus [19]
;
Schiff, Manuel [20]
;
Pichard, Samia [21]
;
Rigal, Odile [22]
;
Pyle, Angela [23]
;
Chinnery, Patrick F. [24]
;
Konstantopoulou, Vassiliki [25]
;
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
作者单位：
Univ Helsinki, Neurol, Clin Neurosci, Helsinki 340, Finland
[1]
Newcastle Univ, Inst Med Genet, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE1 3BZ
[2]
Hacettepe Univ, Childrens Hosp, Dept Pediat, Pathol Unit, TR-06100 Ankara, Turkey
[3]
Aarhus Univ, Dept Clin Med, Res Unit Mol Med, DK-8200 Aarhus N, Denmark
[4]
Hacettepe Univ, Childrens Hosp, Dept Pediat, Neurol Unit, TR-06100 Ankara, Turkey
[5]
Paracelsus Med Univ, SALK Salzburg, Dept Paediat, A-5020 Salzburg, Austria
[6]
Murdoch Childrens Res Inst, Melbourne, Vic 3010, Australia
[7]
Univ Roma Tor Vergata, Med Genet Sect, Dept Biomed & Prevent, I-00133 Rome, Italy
[8]
Univ Padua, Dept Neurosci, Neuromuscular Ctr, I-35129 Padua, Italy
[9]
Fdn IRCCS Neurol Inst C Besta, Mol Neurogenet Unit, I-20126 Milan, Italy
[10]
Ctr Hosp Univ Lyon, Serv Malad Hereditaires Metab & Depistage Neonata, Ctr Biol & Pathol Est, F
[11]
Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WCIN 3BG, England
[12]
Univ Pablo Olavide, Ctr Andaluz Biol Desarrollo, Seville 41013, Spain
[13]
Hacettepe Univ, Childrens Hosp, Dept Pediat, Metab Unit, TR-06100 Ankara, Turkey
[14]
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Munich, Germany
[15]
Hop Robert Debre, AP HP, Reference Ctr Inherited Metab Dis, F-75019 Paris, France
[16]
Univ Cambridge, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge CB2 0QQ, England
[17]
Univ Helsinki, Cent Hosp, Hosp Children & Adolescence, Dept Pediat Neurol, Helsinki 280, Finland
[18]
Univ Bari Aldo Moro, Dept Biosci Biotechnol & Biopharmaceut, I-70125 Bari, Italy
[19]
Univ Cattolica Sacro Cuore, Italy Inst Med Genet, I-00168 Rome, Italy
[20]
Univ Calabria, Dept DiBEST Biol Ecol & Earth Sci, I-87036 Arcavacata Di Rende, Italy
[21]
Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
[22]
Hop Robert Debre, INSERM, UMR 1141, F-75019 Paris, France
[23]
Robert Debre Hosp, Biochem Hormonol Lab, F-75019 Paris, France
[24]
Med Univ Vienna, Dept Pediat, A-1090 Vienna, Austria
[25]
发布时间
2017-04-05
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The American Journal of Human Genetics
The American Journal of Human Genetics
1130-1145页
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