A Multinational Study of Acute and Long-term Outcomes of Type 1 Galactosemia Patients Who Carry the S135L (c.404C>T) Variant of GALT

Quinton Katler, Karolina M Stepien, Nathan Paull, Sneh Patel, Michael Adams, Mehmet Cihan Balci, Gerard T Berry, Annet M Bosch, Angela De La O, Didem Demirbas, Julianna Edman, Can Ficicioglu, Melanie Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende PintoJúlio César Rocha, M Estela Rubio-Gozalbo, Michael Saad-Naguib, Sabine Scholl-Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L Fridovich-Keil*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Biochemistry, Genetics and Molecular Biology

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