Haijes HA et al. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. J Inherit Metab Dis. 2019 May 23. PMID: 31119747.
Haijes HA et al. Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. J Inherit Metab Dis. 2019 May 22. PMID: 31119742.
Almási T et al. Systematic literature review and meta-analysis on the epidemiology of methylmalonic academia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. Orphanet J Rare Dis. 2019;14(1):84. PMID: 31023387.
Manoli I et al. Isolated Methylmalonic Acidemia. 2005 Aug 16. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® PMID: 20301409.
Fraser JL et al. Methylmalonic and Propionic Acidemias: Clinical Management Update. Curr Opin Pediatr. 2016;28(6):682-693. PMID: 27653704.
Baumgartner MR et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;2(9):130. PMID: 25205257.
Gick J. Organic acidurias. A guide for patients, parents and families. E-IMD http://www.e-imd.org/rc/e-imd/htm/Article/2011/e-imd-20110729-235456-354/src/htm_fullText/en/Organic_Acidurias.pdf