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PPA1 deficiency causes a deranged galactose metabolism recognizable in neonatal screening by Achleitner, Melanie T. (Author) , Jans, Judith J. M. (Author) , Ebner, Laura (Author) , Spenger, Johannes (Author) , Konstantopoulou, Vassiliki (Author) , Feichtinger, René G. (Author) , Brugger, Karin (Author) , Mayr, Doris (Author) , Wevers, Ron A. (Author) , Thiel, Christian (Author) , Wortmann, Saskia B. (Author) , Mayr, Johannes A. (Author) ,

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

The metabolic map into the pathomechanism and treatment of PGM1-CDG by Radenkovic, Silvia (Author) , Himmelreich, Nastassja (Author) , Thiel, Christian (Author) ,

• Verlag, Volltext
• Verlag, Volltext