TY  - JOUR
U1  - Wissenschaftlicher Artikel
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
Y1  - 2022
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  -