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Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Yin-Hsiu ChienNi-Chung LeePin-Wen ChenHui-Ying YehMichael H GelbPao-Chin ChiuShao-Yin ChuChen-Hao LeeAn-Ru LeePaul Wuh-Liang Hwu
Published in: Orphanet journal of rare diseases (2020)
Routine newborn screening of MPS 4A and other LSDs were made possible by the 8-plex LSD screening assay. However, detailed phenotype prediction and the time to start treatment will need further elucidation.
Keyphrases
  • high throughput
  • pregnant women
  • clinical practice
  • cord blood
  • preterm infants
  • replacement therapy