GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
GMPPB-CDG 导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏。
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70136
Damiano Carla, Tarallo Antonietta, Gragnaniello Vincenza, Strollo Sandra, Fecarotta Simona, Tuzzi M Rosaria, Polishchuk Elena, Montefusco Sandro, Valanzano Anna, Assunto Antonia, Minopoli Nadia, Casa Roberto Della, Polishchuk Roman, Groen Stijn L M In 't, Medina Diego Luis, Bertini Enrico, Carrozzo Rosalba, Emmerich Julia, Schoser Benedikt, Pijnappel W W M Pim, Parenti Giancarlo