Hasil Pencarian - Steve Rodems

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  1. 1
    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis oleh Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson

    Diterbitkan 2023-01-01
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  2. 2
    P561: Population-based incidence estimates of classical homocystinuria using the Genome Aggregation Database (gnomAD)

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

    Diterbitkan 2023-01-01
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  3. 3
    Mechanism of action and impact of thiol homeostasis on efficacy of an enzyme replacement therapy for classical homocystinuria

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

    Diterbitkan 2024-11-01
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  4. 4
    O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)*

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

    Diterbitkan 2023-01-01
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