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- [1] An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach[J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2017, 10 : 38 - 44Aintablian, H. K.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USA Phoenix Childrens Hosp, Rosenberg Childrens Med Bldg 1920 E Cambridge Ave, Phoenix, AZ 85006 USA 3301 Deer Creek Ln, Glendale, CA 91208 USA Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USANarayanan, V.论文数: 0 引用数: 0 h-index: 0机构: Tgen, Ctr Rare Childhood Disorders C4RCD, Phoenix, AZ USA Tgen, 445 N 5th St, Phoenix, AZ 85004 USA Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USABelnap, N.论文数: 0 引用数: 0 h-index: 0机构: Tgen, Ctr Rare Childhood Disorders C4RCD, Phoenix, AZ USA Tgen, 445 N 5th St, Phoenix, AZ 85004 USA Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USARamsey, K.论文数: 0 引用数: 0 h-index: 0机构: Tgen, Ctr Rare Childhood Disorders C4RCD, Phoenix, AZ USA Tgen, 445 N 5th St, Phoenix, AZ 85004 USA Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USAGrebe, T. A.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USA Phoenix Childrens Hosp, Rosenberg Childrens Med Bldg 1920 E Cambridge Ave, Phoenix, AZ 85006 USA Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USA
- [2] High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (08) : 1112 - 1116Collet, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceAssouline, Zahra论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceBonnet, Damien论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France论文数: 引用数: h-index:机构:Iserin, Franck论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceSidi, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: Hop Charles Nicolle, CHU Rouen, Dept Neonatal Med Neuropediat & Funct Educ, Unite Genet Clin, Rouen, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceLardennois, Caroline论文数: 0 引用数: 0 h-index: 0机构: Hop Charles Nicolle, CHU Rouen, Dept Neonatal Med Neuropediat & Funct Educ, Unite Genet Clin, Rouen, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceMetodiev, Metodi Dimitrov论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceHaberberger, Birgit论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum, Inst Human Genet, Munich, Germany Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceHaack, Tobias论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum, Inst Human Genet, Munich, Germany Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceMunnich, Arnold论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum, Inst Human Genet, Munich, Germany Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, FranceRotig, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Cardiol,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Genet,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Pediat,Inst Imagine, 149 Rue Sevres, F-75015 Paris, France
- [3] Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients[J]. MOLECULAR GENETICS AND METABOLISM, 2016, 118 (03) : 185 - 189Dewulf, Joseph P.论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, BelgiumBarrea, Catherine论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Clin Univ St Luc, Serv Cardiol Pediat, B-1200 Brussels, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, BelgiumVincent, Marie-Francoise论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, BelgiumDe Laet, Corinne论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Univ Enfants Reine Fabiola, Nutr & Metab Unit, Brussels, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, BelgiumVan Coster, Rudy论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Pediat Neurol, De Pintelaan 185, B-9000 Ghent, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, BelgiumSeneca, Sara论文数: 0 引用数: 0 h-index: 0机构: Res Grp Reprod & Genet VUB, UZ Brussel, Ctr Med Genet, Laarbeeklaan 101, B-1090 Brussels, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, BelgiumMarie, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, BelgiumNassogne, Marie-Cecile论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Clin Univ St Luc, Serv Neurol Pediat, Ave Hippocrate 10-1062, B-1200 Brussels, Belgium Catholic Univ Louvain, Clin Univ St Luc, Serv Biochim Genet, B-1200 Brussels, Belgium
- [4] Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation[J]. MOLECULAR GENETICS AND METABOLISM, 2017, 121 (03) : 224 - 226Fragaki, Konstantina论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, France Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, FranceChaussenot, Annabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, France Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, FranceBoutron, Audrey论文数: 0 引用数: 0 h-index: 0机构: Paris Sud Teaching Hosp, Bicetre Hosp, AP HP, Dept Biochem, Paris, France Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, FranceBannwarth, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, France Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, FranceRouzier, Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, France Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, FranceChabrol, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Marseille Teaching Hosp, Timone Hosp, Dept Neuropediat, Marseille, France Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, FrancePaquis-Flucklinger, Veronique论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, France Univ Cote dAzur, CHU, INSERM, CNRS,IRCAN, Nice, France
- [5] Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency[J]. NEUROMUSCULAR DISORDERS, 2017, 27 (05) : 473 - 476Schrank, Bertold论文数: 0 引用数: 0 h-index: 0机构: DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, Germany DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, GermanySchoser, Benedikt论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Univ Hosp, Munich, Germany DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, GermanyKlopstock, Thomas论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Univ Hosp, Munich, Germany German Ctr Neurodegenerat Dis DZNE, Munich, Germany Munich Cluster Syst Neurol SyNergy, Munich, Germany DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, GermanySchneiderat, Peter论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Univ Hosp, Munich, Germany DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, GermanyHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, GermanyAbicht, Angela论文数: 0 引用数: 0 h-index: 0机构: MGZ, Med Genet Ctr, Munich, Germany DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, GermanyHolinski-Feder, Elke论文数: 0 引用数: 0 h-index: 0机构: MGZ, Med Genet Ctr, Munich, Germany DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, GermanyAugustis, Sarunas论文数: 0 引用数: 0 h-index: 0机构: Lithuanian Univ Hlth Sci, Med Acad, Dept Neurol, Eiveniu Str 2, Kaunas, Lithuania DKD HELIOS Med Ctr Wiesbaden, Dept Neurol, Wiesbaden, Germany