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., ...More

Journal of Pediatric Endocrinology and Metabolism, vol.32, no.7, pp.675-681, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 7
  • Publication Date: 2019
  • Doi Number: 10.1515/jpem-2018-0457
  • Journal Name: Journal of Pediatric Endocrinology and Metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.675-681
  • Keywords: Classical galactosemia, GALT variations, time of diagnosis, GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE, TURKISH POPULATION, MUTATIONS, GENE, ORGANIZATION, FREQUENCY, SPECTRUM, OUTCOMES
  • Marmara University Affiliated: No