Risultati della ricerca - Steve Rodems

P561: Population-based incidence estimates of classical homocystinuria using the Genome Aggregation Database (gnomAD) di Tiziano Pramparo, Henk Blom, Ida Vanessa Schwartz, Steve Rodems, Frederick Roth

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Mechanism of action and impact of thiol homeostasis on efficacy of an enzyme replacement therapy for classical homocystinuria di Thilo Magnus Philipp, Teodoro Bottiglieri, Wilmelenne Clapper, Kai Liu, Steve Rodems, Csaba Szabo, Tomas Majtan

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O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)* di Tiziano Pramparo, Kimberly Chapman, Ying Chen, Can Ficicioglu, Harvey Levy, Janet Thomas, Sagar Vaidya, Steve Rodems, Ellen Crushell

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