Rare Diseases Symptoms Automatic Extraction

Update on newborn screening.

[phenylketonuria]

Since phenylketonuria was first screened for in the 1960s, newborn screening has expanded to include more than 30 conditions. This commentary provides an update on newborn screening, including the follow-up of abnormal findings, the limitations of such screening, and the ethical questions that screening raises.

Diseases presenting "abnormal findings" symptom

  • cadasil
  • familial mediterranean fever
  • focal myositis
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • phenylketonuria
  • sneddon syndrome
  • zellweger syndrome

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