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Page 1
Acute management of propionic acidemia.
Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Chapman KA, et al. Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Mol Genet Metab. 2012. PMID: 22000903 Free PMC article. Review.
Enamel defects and salivary methylmalonate in methylmalonic acidemia.
Bassim CW, Wright JT, Guadagnini JP, Muralidharan R, Sloan J, Domingo DL, Venditti CP, Hart TC. Bassim CW, et al. Oral Dis. 2009 Apr;15(3):196-205. doi: 10.1111/j.1601-0825.2008.01509.x. Epub 2009 Jan 9. Oral Dis. 2009. PMID: 19143946 Free PMC article.
Mitochondrial dysfunction in mut methylmalonic acidemia.
Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP. Chandler RJ, et al. FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16. FASEB J. 2009. PMID: 19088183 Free PMC article.
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.