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TITLE: 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
AUTHORS: 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.; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE

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TITLE: Galactokinase deficiency: lessons from the GalNet registry
AUTHORS: Estela E Rubio Gozalbo; Britt Derks; Anibh Martin Das; Uta Meyer; Dorothea Moeslinger; Luz L Couce; Aurelie Empain; Can Ficicioglu; Natalia Julia Palacios; Mariela M D De Los Santos De Pelegrin; Isabel A Rivera; Sabine Scholl Buergi; Annet M Bosch; David Cassiman; Didem Demirbas; Matthias Gautschi; Ina Knerr; Philippe Labrune; Anastasia Skouma; Patrick Verloo; Saskia B Wortmann; Eileen P Treacy; David J Timson; Gerard T Berry; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE

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TITLE: Sweet and sour: an update on classic galactosemia Full Text
AUTHORS: Ana I Coelho; Estela E Rubio Gozalbo; Joao B Vicente; Isabel Rivera;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 3

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