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  1. Article

    Open Access

    Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

    Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-...

    Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang in Orphanet Journal of Rare Diseases (2021)

  2. Article

    Open Access

    Audiological and otologic manifestations of glutaric aciduria type I

    Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our kn...

    Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee in Orphanet Journal of Rare Diseases (2020)