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

Chien-Yu HsuehChii-Yuan HuangChia-Feng YangChia-Chen ChangWei-Sheng LinHsiu-Lien ChengShang-Liang WuYen-Fu ChengDau-Ming Niu

Published in: Orphanet journal of rare diseases (2021)

Our study is the largest cohort to show the characteristic hearing outcomes of IOPD patients after ERT. Early ERT within 2 weeks after birth may contribute to better hearing outcomes. Clinicians should be vigilant in testing for the hearing issues associated with IOPD and should intervene early if any HI is detected.

Keyphrases

replacement therapy
hearing loss
end stage renal disease
ejection fraction
newly diagnosed
smoking cessation
late onset
prognostic factors
type diabetes
skeletal muscle
adipose tissue
patient reported outcomes