Article
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Journal of inherited metabolic disease - 1 Nov 2022
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
Abstract excerpt
Patients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and...
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