PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation
PDXK 突变导致多发性神经病,对 5'-磷酸吡哆醛补充剂有反应
期刊:Annals of Neurology
影响因子:8.1
doi:10.1002/ana.25524
Viorica Chelban, Matthew P Wilson, Jodi Warman Chardon, Jana Vandrovcova, M Natalia Zanetti, Eleni Zamba-Papanicolaou, Stephanie Efthymiou, Simon Pope, Maria R Conte, Giancarlo Abis, Yo-Tsen Liu, Eloise Tribollet, Nourelhoda A Haridy, Juan A Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kypr