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Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Jonanlis Ramirez AlcantaraNatalie R GrantSwathi SethuramAmanda NagyCatherine BeckerInderneel SahaiTakara StanleyAlyssa HalperFlorian S Eichler
Published in: The Journal of clinical endocrinology and metabolism (2023)
Our results suggest that implementing NBS for ALD leads to significantly earlier detection of AI and earlier initiation of glucocorticoid supplementation in boys affected by ALD.
Keyphrases
  • loop mediated isothermal amplification
  • artificial intelligence
  • label free
  • real time pcr
  • quality improvement
  • deep learning