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A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. Among authors: patel s. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.
Hand fine motor control in classic galactosemia.
MacWilliams J, Patel S, Carlock G, Vest S, Potter NL, Fridovich-Keil JL. MacWilliams J, et al. Among authors: patel s. J Inherit Metab Dis. 2021 Jul;44(4):871-878. doi: 10.1002/jimd.12376. Epub 2021 Mar 23. J Inherit Metab Dis. 2021. PMID: 33720431 Free PMC article.
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