Conference Proceedings

MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL COA SYNTHASE DEFICIENCY MAY BE RECOGNISED BY INCREASED CONCENTRATIONS OF 4-HYDROXY-6-METHYL-2-PYRONE IN URINARY ORGANIC ACID ANALYSIS

JJ Pitt, H Peters, A Mishra, M Eggington, D Johnson, K Hinderhofer, S Kalb, J Yaplito-Lee, A Cozens, A Boneh, J Zschocke

MOLECULAR GENETICS AND METABOLISM | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2009