TY - GEN AU - Ortez,C AU - Jou,C AU - Cortès-Saladelafont,E AU - Moreno,J AU - Pérez,A AU - Ormazábal,A AU - Pérez-Cerdá,C AU - Pérez,B AU - Artuch,R AU - Cusi,V AU - García-Cazorla,A TI - Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency SN - 1879-0038 PY - 2013///1224 KW - Brain KW - metabolism KW - Fatal Outcome KW - Female KW - GABAergic Neurons KW - physiology KW - Humans KW - Parkinsonian Disorders KW - diagnosis KW - Pyruvate Carboxylase Deficiency Disease KW - Synaptic Transmission KW - Tyrosine 3-Monooxygenase N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1016/j.gene.2013.08.036 ER -