Nizon et al. Orphanet Journal of Rare Diseases 2013, 8:148 http://www.ojrd.com/content/8/1/148 RESEARCH Open Access Abstract Background: Classical organic acidurias including
Guideline for the diagnosis and management of isovaleryl-CoA-dehydrogenase deficiency (isovaleric acidemia) - a systematic review -of isovaleryl-CoA-dehydrogenase deficiency