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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, S

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 l...


Global, regional, and national age-sex-specific mortality for 282 causes of dea...

Roth, GA; Abate, D; Abate, KH; Abay, SM; Abbafati, C; Abbasi, N; Abbastabar, H; Abd-Allah, L; Abdela, J; Abdelalim, A; Abdollahpour, I; Abdulkader, RS

Background Global development goals increasingly rely on country-specific estimates for benchmarking a nation's progress. To meet this need, the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016 estimated global, regional, national, and, for selected locations, subnational cause-specific mortality beginning in the year 1980. Here we report an update to that study, making use of newly availa...


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