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    Article

    Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant

    Y.-H. Chien, S.-Y. Chu, C.-C. Hsu, W.-L. Hwu in Journal of Inherited Metabolic Disease (2002)

  2. No Access

    Article

    Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations

    Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explaine...

    Y.-H. Chien, S.-C. Chiang, A. Huang, J.-M. Lin in Journal of Inherited Metabolic Disease (2001)