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    Results: 3

    1.

    Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

    Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP.

    Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.

    PMID:
    21841779
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

    Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.

    J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23.

    PMID:
    21785126
    [PubMed - indexed for MEDLINE]
    3.

    Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.

    Gregg AR, Warman AW, Thorburn DR, O'Brien WE.

    J Inherit Metab Dis. 1998 Jun;21(4):382-90.

    PMID:
    9700595
    [PubMed - indexed for MEDLINE]

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