New research from the University of Colorado Anschutz Medical Campus is the first to identify defects related to metabolism ...

PARP7 is a mono-ADP-ribosyl transferase (mono-ART) which has recently gained attention due to its emerging role as a negative ...

Such an imaging picture could be seen in mitochondrial cytopathies, amino-acidurias, Wilson’s disease and parainfectious striatal necrosis. These disorders were ruled out by genetic, metabolic and ...