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A Multinational Study of Acute and Long‐Term Outcomes of Type 1 Galactosemia Pa...
Katler, Q; Stepien, K; Paull, N; Patel, S; Adams, M; Balci, M; Berry, G; Bosch, A; DeLaO, A; Demirbas, D; Edman, J; Ficicioglu, C; Goff, M; Hacker, SPatients 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 l...
Data: 2022
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Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE