TY - JOUR U1 - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed) A1 - Sasarman, Florin A1 - Ferdinandusse, Sacha A1 - Sinasac, David S. A1 - Fung, Ernest A1 - Sparkes, Rebecca A1 - Reeves, Melanie A1 - Rombough, Catherine A1 - Sass, Jörn Oliver A1 - Voit, Renate A1 - Ruiter, Jos P. N. A1 - Koster, Janet A1 - Waterham, Hans R. A1 - Pasquini, Elisabetta A1 - Donati, Maria A. A1 - Marquardt, Thorsten A1 - Wanders, Ronald J. A. A1 - Al-Hertani, Walla T1 - 3-Hydroxyisobutyric Acid Dehydrogenase Deficiency: Expanding the Clinical Spectrum and Quantitation of D- and L-3-Hydroxyisobutyric Acid by an LC-MS/MS Method JF - Journal of Inherited Metabolic Disease KW - 3-hydroxyisobutyric aciduria KW - HIBADH KW - valine catabolic pathway KW - 3-hydroxyisobutyric acid dehydrogenase deficiency KW - 3-hydroxyisobutyrate dehydrogenase KW - HIBADH deficiency SN - 0141-8955 SS - 0141-8955 U6 - https://doi.org/10.1002/jimd.12486 DO - https://doi.org/10.1002/jimd.12486 PM - 35174513 VL - 45 IS - 3 SP - 445 EP - 455 PB - Wiley ER -