Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

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van Wegberg A. M. J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M. S., ...Daha Fazla

JOURNAL OF PEDIATRICS, cilt.239, ss.231-236, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Editöre Mektup
  • Cilt numarası: 239
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.jpeds.2021.08.070
  • Dergi Adı: JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.231-236
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Ankara Üniversitesi Adresli: Evet

Özet

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.