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TÃTULO: Reshaping the Treatment Landscape of a Galactose Metabolism Disorder Full Text
AUTORES: Estela Rubio Gozalbo, M.; Vos, E. Naomi; Rivera, Isabel; Lai, Kent; Berry, Gerard T.;
PUBLICAÇÃO: 2025, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 48, NÚMERO: 2

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TÃTULO: A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT Full Text
AUTORES: 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; Vieira de Rezende Pinto, Wladimir Bocca; Rocha, Julio Cesar; Rubio Gozalbo, M. Estela; Saad Naguib, Michael; Scholl Buergi, Sabine; Searcy, Sarah; Sgobbi de Souza, Paulo Victor; Wittenauer, Angela; Fridovich Keil, Judith L.; ...Mais
PUBLICAÇÃO: 2022, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE

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