The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS


Kilavuz S., BULUT F. D. , KOR D. , ŞEKER YILMAZ B., ÖZCAN N. , İNCECİK F. , ...Daha Fazla

NEUROPEDIATRICS, 2021 (SCI İndekslerine Giren Dergi) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1055/s-0040-1722691
  • Dergi Adı: NEUROPEDIATRICS

Özet

Background Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed.