Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

Teke Kisa P., Kose M., Unal O., Er E., Hismi B., Bulbul F. S., ...Daha Fazla

Journal of Pediatric Endocrinology and Metabolism, cilt.32, sa.7, ss.675-681, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 7
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1515/jpem-2018-0457
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.675-681
  • Anahtar Kelimeler: Classical galactosemia, GALT variations, time of diagnosis, GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE, TURKISH POPULATION, MUTATIONS, GENE, ORGANIZATION, FREQUENCY, SPECTRUM, OUTCOMES
  • Marmara Üniversitesi Adresli: Hayır