TY - JOUR U1 - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed) A1 - Ensenauer, Regina A1 - Vockley, Jerry A1 - Willard, Jan-Marie A1 - Huey, Joseph C. A1 - Sass, Jörn Oliver A1 - Edland, Steven D. A1 - Burton, Barbara K. A1 - Berry, Susan A. A1 - Santer, René A1 - Grünert, Sarah A1 - Koch, Hans-Georg A1 - Marquardt, Iris A1 - Rinaldo, Piero A1 - Hahn, Sihoun A1 - Matern, Dietrich T1 - A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening JF - The American Journal of Human Genetics Y1 - 2004 SN - 0002-9297 SS - 0002-9297 U6 - https://doi.org/10.1086/426318 DO - https://doi.org/10.1086/426318 PM - 15486829 N1 - Open Archive VL - 75 IS - 6 SP - 1136 EP - 1142 PB - American Society of Human Genetics ER -