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- [1] Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohortJOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (01) : 107 - 116Levtova, Alina论文数: 0 引用数: 0 h-index: 0机构: CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, Canada Univ Montreal, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, Canada CHU St Justine, Div Med Genet, Dept Pediat, 3175 Cote St Catherine, Montreal, PQ H3T 1C5, Canada Univ Montreal, 3175 Cote St Catherine, Montreal, PQ H3T 1C5, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, CanadaWaters, Paula J.论文数: 0 引用数: 0 h-index: 0机构: CHUS, Univ Sherbrooke, Dept Pediat, Div Med Genet, 3001 12th Ave North, Sherbrooke, PQ J1H 5N4, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, Canada论文数: 引用数: h-index:机构:Levesque, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHUS, Univ Sherbrooke, Dept Pediat, Div Med Genet, 3001 12th Ave North, Sherbrooke, PQ J1H 5N4, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, CanadaAuray-Blais, Christiane论文数: 0 引用数: 0 h-index: 0机构: CHUS, Univ Sherbrooke, Dept Pediat, Div Med Genet, 3001 12th Ave North, Sherbrooke, PQ J1H 5N4, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, CanadaClarke, Joe T. R.论文数: 0 引用数: 0 h-index: 0机构: CHUS, Univ Sherbrooke, Dept Pediat, Div Med Genet, 3001 12th Ave North, Sherbrooke, PQ J1H 5N4, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, CanadaLaframboise, Rachel论文数: 0 引用数: 0 h-index: 0机构: Laval Univ Hosp Ctr, Dept Pediat, Quebec City, PQ, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, CanadaMaranda, Bruno论文数: 0 引用数: 0 h-index: 0机构: CHUS, Univ Sherbrooke, Dept Pediat, Div Med Genet, 3001 12th Ave North, Sherbrooke, PQ J1H 5N4, Canada Laval Univ Hosp Ctr, Dept Pediat, Quebec City, PQ, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, CanadaMitchell, Grant A.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Div Med Genet, Dept Pediat, 3175 Cote St Catherine, Montreal, PQ H3T 1C5, Canada Univ Montreal, 3175 Cote St Catherine, Montreal, PQ H3T 1C5, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, Canada论文数: 引用数: h-index:机构:Braverman, Nancy E.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada Montreal Childrens Hosp, Dept Pediat, Montreal, PQ, Canada CHUM, Dept Med, Div Med Genet, Tour Viger,900 Rue St Denis,R07-462, Montreal, PQ H2X 0A9, Canada
- [2] The clinical and molecular spectrum of ACSF3 combined malonic and methylmalonic aciduriaMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S2 - S2Sloan, Jennifer论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USAManoli, Irini论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USAJohnston, Jennifer论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USABiesecker, Leslie论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USAVenditti, Charles论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USA
- [3] Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaNature Genetics, 2011, 43 : 883 - 886Jennifer L Sloan论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyJennifer J Johnston论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyIrini Manoli论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyRandy J Chandler论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyCaitlin Krause论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyNuria Carrillo-Carrasco论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologySuma D Chandrasekaran论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyJustin R Sysol论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyKevin O'Brien论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyNatalie S Hauser论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyJulie C Sapp论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyHeidi M Dorward论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyMarjan Huizing论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyBruce A Barshop论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologySusan A Berry论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyPhilip M James论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyNeena L Champaigne论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyPascale de Lonlay论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyVassilli Valayannopoulos论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyMichael D Geschwind论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyDimitar K Gavrilov论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyWilliam L Nyhan论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyLeslie G Biesecker论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of PharmacologyCharles P Venditti论文数: 0 引用数: 0 h-index: 0机构: Genetics and Molecular Biology Branch,Department of Pharmacology
- [4] Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaNATURE GENETICS, 2011, 43 (09) : 883 - U96Sloan, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAJohnston, Jennifer J.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAManoli, Irini论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAChandler, Randy J.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA George Washington Univ, Dept Pharmacol, Inst Biomed Sci, Washington, DC 20052 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAKrause, Caitlin论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USACarrillo-Carrasco, Nuria论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAChandrasekaran, Suma D.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USASysol, Justin R.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAO'Brien, Kevin论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAHauser, Natalie S.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USASapp, Julie C.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USADorward, Heidi M.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAHuizing, Marjan论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USABarshop, Bruce A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, Biochem Genet Lab, San Diego, CA 92103 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USABerry, Susan A.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAJames, Philip M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Pediat, Childrens Hosp Boston, Boston, MA 02115 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAChampaigne, Neena L.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAde Lonlay, Pascale论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, Reference Ctr Inherited Metab Disorders, Paris, France NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAValayannopoulos, Vassilli论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malades Hosp, Reference Ctr Inherited Metab Disorders, Paris, France NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAGeschwind, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAGavrilov, Dimitar K.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USANyhan, William L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, Biochem Genet Lab, San Diego, CA 92103 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USABiesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USAVenditti, Charles P.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA
- [5] Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeJOURNAL OF MEDICAL GENETICS, 2011, 48 (09) : 602 - 605Alfares, Ahmed论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaNunez, Laura Dempsey论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaAl-Thihli, Khalid论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaMitchell, John论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Paediat, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaMelancon, Serge论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaAnastasio, Natascia论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaHa, Kevin C. H.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaMajewski, Jacek论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaRosenblatt, David S.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Paediat, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, CanadaBraverman, Nancy论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Dept Paediat, Montreal, PQ H3Z 2Z3, Canada McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3Z 2Z3, Canada