Unveiling the mutational spectrum of classic galactosemia in Croatia (CROSBI ID 651069)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Riviera I, Angelo S, Pavlu-Pereira H, Silva MJ, Tavares de Almeida I, Petković-Ramadža, Danijela ; Sarnavka, Vlado ; Vuković, Jurica ; Fumić, Ksenija ; Krželj, Vjekoslav ; Lozić, Bernarda ; Puseljić, Silvija ; Barić Ivo
engleski
Unveiling the mutational spectrum of classic galactosemia in Croatia
The present work started unveiling the mutational spectrum of classic galactosemia in Croatia, and it showed that most Croatian patients may benefit from the novel therapeutic approaches that are being developed, namely the use of chaperones like arginine.
classic galactosemia, Croatia, mutational spectrum
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Podaci o prilogu
147-147.
2016.
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objavljeno
Podaci o matičnoj publikaciji
Journal of inherited metabolic disease
0141-8955
1573-2665
Podaci o skupu
2016 SSIEM Annual Symposium
poster
06.09.2016-09.09.2016
Rim, Italija
