PubMed (OMIM) for id: 197322

Year	Number of Results
1994	1
1996	1
1998	1
2007	1
2011	3
2019	1
2024	0

1

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE. Levtova A, et al. J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032. J Inherit Metab Dis. 2019. PMID: 30740739

2

Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.

Witkowski A, Thweatt J, Smith S. Witkowski A, et al. J Biol Chem. 2011 Sep 30;286(39):33729-36. doi: 10.1074/jbc.M111.291591. Epub 2011 Aug 16. J Biol Chem. 2011. PMID: 21846720 Free PMC article.

3

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. Sloan JL, et al. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908. Nat Genet. 2011. PMID: 21841779 Free PMC article.

4

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. Alfares A, et al. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126

5

Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.

Watkins PA, Maiguel D, Jia Z, Pevsner J. Watkins PA, et al. J Lipid Res. 2007 Dec;48(12):2736-50. doi: 10.1194/jlr.M700378-JLR200. Epub 2007 Aug 30. J Lipid Res. 2007. PMID: 17762044 Free article.

6

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. Gregg AR, et al. J Inherit Metab Dis. 1998 Jun;21(4):382-90. doi: 10.1023/a:1005302607897. J Inherit Metab Dis. 1998. PMID: 9700595

7

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.

Podell M, Shelton GD, Nyhan WL, Wagner SO, Genders A, Oglesbee M, Fenner WR. Podell M, et al. Metab Brain Dis. 1996 Sep;11(3):239-47. doi: 10.1007/BF02237961. Metab Brain Dis. 1996. PMID: 8869944 Free PMC article.

8

Malonic aciduria.

Ozand PT, Nyhan WL, al Aqeel A, Christodoulou J. Ozand PT, et al. Brain Dev. 1994 Nov;16 Suppl:7-11. doi: 10.1016/0387-7604(94)90091-4. Brain Dev. 1994. PMID: 7537025

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