(en) M. He, S.L. Rutledge, D.R. Kelly, C.A. Palmer, G. Murdoch, N. Majumder, R.D. Nicholls, Z. Pei, P.A. Watkins et J. Vockleyemail, « A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency », American Journal of Human Genetics, vol. 81, no 1, , p. 87-103 (PMID17564966, PMCID1950923, DOI10.1086/519219, lire en ligne)
doi.org
dx.doi.org
(en) Jian Zhang, Frank E. Frerman et Jung-Ja P. Kim, « Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool », Proceedings of the National Academy of Sciences of the United States of America, vol. 103, no 44, , p. 16212-16217 (PMID17050691, PMCID1637562, DOI10.1073/pnas.0604567103, lire en ligne)
(en) Nicholas J. Watmough et Frank E. Frerman, « The electron transfer flavoprotein: Ubiquinone oxidoreductases », Biochimica et Biophysica Acta (BBA) - Bioenergetics, vol. 1797, no 12, , p. 1910-1916 (PMID20937244, DOI10.1016/j.bbabio.2010.10.007, lire en ligne)
(en) M. He, S.L. Rutledge, D.R. Kelly, C.A. Palmer, G. Murdoch, N. Majumder, R.D. Nicholls, Z. Pei, P.A. Watkins et J. Vockleyemail, « A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency », American Journal of Human Genetics, vol. 81, no 1, , p. 87-103 (PMID17564966, PMCID1950923, DOI10.1086/519219, lire en ligne)
(en) C. Vianey-Liaud, P. Divry, N. Gregersen et M. Mathieu, « The inborn errors of mitochondrial fatty acid oxidation », Journal of Inherited Metabolic Disease, vol. 10, no 1 Supplement, , p. 159-198 (PMID3119938, DOI10.1007/BF01812855, lire en ligne)
(en) F. E. Frerman et S. I. Goodman, « Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts », Proceedings of the Academy of Sciences of the United States of America, vol. 82, no 13, , p. 4517-4520 (PMID2989828, PMCID391133, DOI10.1073/pnas.82.13.4517, lire en ligne)
(en) Mohit Singla, Grace Guzman, Andrew J. Griffin et Saroja Bharati, « Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency », Pediatric Cardiology, vol. 29, no 2, , p. 446-451 (PMID17912479, DOI10.1007/s00246-007-9119-6, lire en ligne)
(en) D. M. Turnbull, K. Bartlett, J. A. Eyre, D. Gardner-Medwin, M. A. Johnson, J. Fisher et N. J. Watmough, « Lipid Storage Myopathy due to Glutaric Aciduria Type II: Treatment of a Potentially Fatal Myopathy », Developmental Medicine & Child Neurology, vol. 30, no 5, , p. 667-672 (PMID3229565, DOI10.1111/j.1469-8749.1988.tb04806.x, lire en ligne)
(en) Wen-Chen Liang, Aya Ohkuma, Yukiko K. Hayashi, Luis Carlos López, Michio Hirano, Ikuya Nonaka, Satoru Noguchi, Liang-Hui Chen, Yuh-Jyh Jongemail et Ichizo Nishinoemail, « ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency », Neuromuscular Disorders, vol. 19, no 3, , p. 212-216 (PMID19249206, DOI10.1016/j.nmd.2009.01.008, lire en ligne)
(en) Stephen I Goodman, Robert J Binard, Michael R Woontner et Frank E Frerman, « Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene », Molecular Genetics and Metabolism, vol. 77, nos 1-2, , p. 86-90 (PMID12359134, DOI10.1016/S1096-7192(02)00138-5, lire en ligne)
(en) Rikke K. J. Olsen, Simon E. Olpin, Brage S. Andresen, Zofia H. Miedzybrodzka, Morteza Pourfarzam, Begoña Merinero, Frank E. Frerman, Michael W. Beresford, John C. S. Dean, Nanna Cornelius, Oluf Andersen, Anders Oldfors, Elisabeth Holme, Niels Gregersen, Douglass M. Turnbull et Andrew A. M. Morris, « ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency », Brain, vol. 130, no 8, , p. 2045-2054 (PMID17584774, DOI10.1093/brain/awm135, lire en ligne)
(en) William Rhead, Vickie Roettger, Teresa Marshali et Brad Amendt, « Multiple Acyl-Coenzyme A Dehydrogenation Disorder Responsive to Riboflavin: Substrate Oxidation, Flavin Metabolism, and Flavoenzyme Activities in Fibroblasts », Pediatric Research, vol. 33, no 2, , p. 129-135 (PMID8433888, DOI10.1203/00006450-199302000-00008, lire en ligne)
jlr.org
(en) J. H. Galloway, I. J. Cartwright et M. J. Bennett, « Abnormal myocardial lipid composition in an infant with type II glutaric aciduria », Journal of Lipid Research, vol. 28, no 3, , p. 279-284 (PMID3572253, lire en ligne)
nature.com
(en) William Rhead, Vickie Roettger, Teresa Marshali et Brad Amendt, « Multiple Acyl-Coenzyme A Dehydrogenation Disorder Responsive to Riboflavin: Substrate Oxidation, Flavin Metabolism, and Flavoenzyme Activities in Fibroblasts », Pediatric Research, vol. 33, no 2, , p. 129-135 (PMID8433888, DOI10.1203/00006450-199302000-00008, lire en ligne)
nih.gov
ncbi.nlm.nih.gov
(en) Jian Zhang, Frank E. Frerman et Jung-Ja P. Kim, « Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool », Proceedings of the National Academy of Sciences of the United States of America, vol. 103, no 44, , p. 16212-16217 (PMID17050691, PMCID1637562, DOI10.1073/pnas.0604567103, lire en ligne)
(en) Nicholas J. Watmough et Frank E. Frerman, « The electron transfer flavoprotein: Ubiquinone oxidoreductases », Biochimica et Biophysica Acta (BBA) - Bioenergetics, vol. 1797, no 12, , p. 1910-1916 (PMID20937244, DOI10.1016/j.bbabio.2010.10.007, lire en ligne)
(en) M. He, S.L. Rutledge, D.R. Kelly, C.A. Palmer, G. Murdoch, N. Majumder, R.D. Nicholls, Z. Pei, P.A. Watkins et J. Vockleyemail, « A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency », American Journal of Human Genetics, vol. 81, no 1, , p. 87-103 (PMID17564966, PMCID1950923, DOI10.1086/519219, lire en ligne)
(en) C. Vianey-Liaud, P. Divry, N. Gregersen et M. Mathieu, « The inborn errors of mitochondrial fatty acid oxidation », Journal of Inherited Metabolic Disease, vol. 10, no 1 Supplement, , p. 159-198 (PMID3119938, DOI10.1007/BF01812855, lire en ligne)
(en) F. E. Frerman et S. I. Goodman, « Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts », Proceedings of the Academy of Sciences of the United States of America, vol. 82, no 13, , p. 4517-4520 (PMID2989828, PMCID391133, DOI10.1073/pnas.82.13.4517, lire en ligne)
(en) J. H. Galloway, I. J. Cartwright et M. J. Bennett, « Abnormal myocardial lipid composition in an infant with type II glutaric aciduria », Journal of Lipid Research, vol. 28, no 3, , p. 279-284 (PMID3572253, lire en ligne)
(en) Mohit Singla, Grace Guzman, Andrew J. Griffin et Saroja Bharati, « Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency », Pediatric Cardiology, vol. 29, no 2, , p. 446-451 (PMID17912479, DOI10.1007/s00246-007-9119-6, lire en ligne)
(en) D. M. Turnbull, K. Bartlett, J. A. Eyre, D. Gardner-Medwin, M. A. Johnson, J. Fisher et N. J. Watmough, « Lipid Storage Myopathy due to Glutaric Aciduria Type II: Treatment of a Potentially Fatal Myopathy », Developmental Medicine & Child Neurology, vol. 30, no 5, , p. 667-672 (PMID3229565, DOI10.1111/j.1469-8749.1988.tb04806.x, lire en ligne)
(en) Wen-Chen Liang, Aya Ohkuma, Yukiko K. Hayashi, Luis Carlos López, Michio Hirano, Ikuya Nonaka, Satoru Noguchi, Liang-Hui Chen, Yuh-Jyh Jongemail et Ichizo Nishinoemail, « ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency », Neuromuscular Disorders, vol. 19, no 3, , p. 212-216 (PMID19249206, DOI10.1016/j.nmd.2009.01.008, lire en ligne)
(en) Stephen I Goodman, Robert J Binard, Michael R Woontner et Frank E Frerman, « Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene », Molecular Genetics and Metabolism, vol. 77, nos 1-2, , p. 86-90 (PMID12359134, DOI10.1016/S1096-7192(02)00138-5, lire en ligne)
(en) Rikke K. J. Olsen, Simon E. Olpin, Brage S. Andresen, Zofia H. Miedzybrodzka, Morteza Pourfarzam, Begoña Merinero, Frank E. Frerman, Michael W. Beresford, John C. S. Dean, Nanna Cornelius, Oluf Andersen, Anders Oldfors, Elisabeth Holme, Niels Gregersen, Douglass M. Turnbull et Andrew A. M. Morris, « ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency », Brain, vol. 130, no 8, , p. 2045-2054 (PMID17584774, DOI10.1093/brain/awm135, lire en ligne)
(en) William Rhead, Vickie Roettger, Teresa Marshali et Brad Amendt, « Multiple Acyl-Coenzyme A Dehydrogenation Disorder Responsive to Riboflavin: Substrate Oxidation, Flavin Metabolism, and Flavoenzyme Activities in Fibroblasts », Pediatric Research, vol. 33, no 2, , p. 129-135 (PMID8433888, DOI10.1203/00006450-199302000-00008, lire en ligne)
nmd-journal.com
(en) Wen-Chen Liang, Aya Ohkuma, Yukiko K. Hayashi, Luis Carlos López, Michio Hirano, Ikuya Nonaka, Satoru Noguchi, Liang-Hui Chen, Yuh-Jyh Jongemail et Ichizo Nishinoemail, « ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency », Neuromuscular Disorders, vol. 19, no 3, , p. 212-216 (PMID19249206, DOI10.1016/j.nmd.2009.01.008, lire en ligne)
oxfordjournals.org
brain.oxfordjournals.org
(en) Rikke K. J. Olsen, Simon E. Olpin, Brage S. Andresen, Zofia H. Miedzybrodzka, Morteza Pourfarzam, Begoña Merinero, Frank E. Frerman, Michael W. Beresford, John C. S. Dean, Nanna Cornelius, Oluf Andersen, Anders Oldfors, Elisabeth Holme, Niels Gregersen, Douglass M. Turnbull et Andrew A. M. Morris, « ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency », Brain, vol. 130, no 8, , p. 2045-2054 (PMID17584774, DOI10.1093/brain/awm135, lire en ligne)
pnas.org
(en) Jian Zhang, Frank E. Frerman et Jung-Ja P. Kim, « Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool », Proceedings of the National Academy of Sciences of the United States of America, vol. 103, no 44, , p. 16212-16217 (PMID17050691, PMCID1637562, DOI10.1073/pnas.0604567103, lire en ligne)
(en) F. E. Frerman et S. I. Goodman, « Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts », Proceedings of the Academy of Sciences of the United States of America, vol. 82, no 13, , p. 4517-4520 (PMID2989828, PMCID391133, DOI10.1073/pnas.82.13.4517, lire en ligne)
sciencedirect.com
(en) Nicholas J. Watmough et Frank E. Frerman, « The electron transfer flavoprotein: Ubiquinone oxidoreductases », Biochimica et Biophysica Acta (BBA) - Bioenergetics, vol. 1797, no 12, , p. 1910-1916 (PMID20937244, DOI10.1016/j.bbabio.2010.10.007, lire en ligne)
(en) Stephen I Goodman, Robert J Binard, Michael R Woontner et Frank E Frerman, « Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene », Molecular Genetics and Metabolism, vol. 77, nos 1-2, , p. 86-90 (PMID12359134, DOI10.1016/S1096-7192(02)00138-5, lire en ligne)
springer.com
link.springer.com
(en) C. Vianey-Liaud, P. Divry, N. Gregersen et M. Mathieu, « The inborn errors of mitochondrial fatty acid oxidation », Journal of Inherited Metabolic Disease, vol. 10, no 1 Supplement, , p. 159-198 (PMID3119938, DOI10.1007/BF01812855, lire en ligne)
(en) Mohit Singla, Grace Guzman, Andrew J. Griffin et Saroja Bharati, « Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency », Pediatric Cardiology, vol. 29, no 2, , p. 446-451 (PMID17912479, DOI10.1007/s00246-007-9119-6, lire en ligne)
(en) D. M. Turnbull, K. Bartlett, J. A. Eyre, D. Gardner-Medwin, M. A. Johnson, J. Fisher et N. J. Watmough, « Lipid Storage Myopathy due to Glutaric Aciduria Type II: Treatment of a Potentially Fatal Myopathy », Developmental Medicine & Child Neurology, vol. 30, no 5, , p. 667-672 (PMID3229565, DOI10.1111/j.1469-8749.1988.tb04806.x, lire en ligne)