Search Results

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: the northeastern Italian experience by Burlina, Alberto (Author) , Giuliani, Antonella (Author) , Polo, Giulia (Author) , Gueraldi, Daniela (Author) , Gragnaniello, Vincenza (Author) , Cazzorla, Chiara (Author) , Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Burlina, Alessandro P. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism by Manti, Filippo (Author) , Nardecchia, Francesca (Author) , Blau, Nenad (Author) ,

• Verlag, Volltext
• Verlag, Volltext