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Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD)
2013 LEUZZI, Vincenzo, CARDUCCI, Claudia, Giannini, M. T, TOLVE, MANUELA, Pignattoni, C, Pasquali, A, DANTI, FEDERICA RACHELE, CARDUCCI, Carla +7 moreopenaire +1 more sourceSepiapterin reductase deficiency case report a monoamine neurotransmitter disorder mimicking cerebral palsy
2013 KONUŞKAN, BAHADIR, COŞKUN, TURGAY, THÖNY, BEAT, TOKATLI, AYŞEGÜL, HİŞMİ, BURCU, DURSUN, ALİ, TOPÇU, MERAL, ÜNAL, ÖZLEM, SİVRİ, HATİCE SERAP +8 moreopenaire +1 more sourceSEPIAPTERIN REDUCTASE DEFICIENCY IN THREE SIBLINGS: LATE-ONSET PRESENTATION WITHOUT COGNITIVE DELAY
2009 Merinero, B, Arrabal, L, Artuch, R, Ormazabal, A, Roldan, S, Sanchez, A, Perez-Cerda, C, Desviat, LR, Ugarte, M +8 moreopenaire +1 more source
