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Open AccessHearing 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-...
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Open AccessAudiological 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...