TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Sass, Jörn Oliver
A1  - Behringer, Sidney
A1  - Fernando, Malkanthi
A1  - Cesaroni, Elisabetta
A1  - Cursio, Ida
A1  - Volpini, Alberto
A1  - Till, Claudia
T1  - d-Glycerate kinase deficiency in a neuropediatric patient
JF  - Brain and Development
KW  - Inborn error of metabolism
KW  - d-Glyceric aciduria
KW  - Splicing
KW  - GLYCTK
KW  - Organic aciduria
KW  - d-Glycerate kinase deficiency
Y1  - 2020
SN  - 0387-7604
SS  - 0387-7604
U6  - https://doi.org/10.1016/j.braindev.2019.11.008
DO  - https://doi.org/10.1016/j.braindev.2019.11.008
PM  - 31837836
VL  - 42
IS  - 2
SP  - 226
EP  - 230
PB  - Elsevier
ER  -