A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
一项针对携带GALT基因S135L (c.404C > T)变异的1型半乳糖血症患者的急性和长期预后进行的多国研究
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12556
Katler, Quinton S; Stepien, Karolina M; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T; Bosch, Annet M; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, Bryce A; Nichols, Brandi; de Rezende Pinto, Wladimir Bocca Vieira; Rocha, Júlio César; Rubio-Gozalbo, M Estela; Saad-Naguib, Michael; Scholl-Buergi, Sabine; Searcy, Sarah; de Souza, Paulo Victor Sgobbi; Wittenauer, Angela; Fridovich-Keil, Judith L