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Extraction and Analysis of Taiwanese Green Propolis
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Newborn screening: Taiwanese experience.

Yin-Hsiu Chien1,2, Wuh-Liang Hwu1,2, Ni-Chung Lee1,2

  • 1Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

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|August 9, 2019
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Summary

Newborn screening (NBS) for Pompe disease in Taiwan has evolved, identifying patients early. Challenges remain in managing diagnosed infants without symptoms and improving current therapies.

Keywords:
Pompe diseaseacid α-glucosidaseenzyme replacement therapy (ERT)newborn screening (NBS)second-tier

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Pompe disease, a rare genetic disorder, requires early diagnosis for effective treatment.
  • Newborn screening (NBS) is crucial for identifying Pompe disease in asymptomatic infants.
  • Taiwan's population presents unique challenges due to a prevalent pseudodeficiency variant.

Purpose of the Study:

  • To describe the evolution of NBS methods for Pompe disease in Taiwan.
  • To review and update the outcomes of NBS-identified Pompe disease patients.
  • To discuss limitations in current Pompe disease therapy and challenges in managing diagnosed infants.

Main Methods:

  • Review of historical and current NBS methodologies for Pompe disease in Taiwan.
  • Analysis of clinical outcomes for infants identified through NBS.
  • Literature review on current therapeutic limitations and management strategies.

Main Results:

  • The evolution of NBS in Taiwan has enabled earlier diagnosis of Pompe disease.
  • Outcomes for NBS-identified patients have been updated, highlighting treatment efficacy and limitations.
  • Significant challenges exist in managing infants diagnosed via NBS but showing no immediate clinical manifestations.

Conclusions:

  • Continued refinement of NBS protocols is necessary for optimal Pompe disease detection.
  • Current therapies for Pompe disease have limitations, necessitating further research.
  • Development of predictive biomarkers and improved treatment strategies are essential for managing diagnosed infants.