A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing

Cakmak Celik F., Ozlu M. M., CEYLANER S.

Clinical Neurology and Neurosurgery, vol.202, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 202
  • Publication Date: 2021
  • Doi Number: 10.1016/j.clineuro.2021.106506
  • Journal Name: Clinical Neurology and Neurosurgery
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE
  • Keywords: Adenylosuccinate lyase (ADSL) deficiency, Infant, Respiratory distress, Hypotonic infant, Seizure
  • Lokman Hekim University Affiliated: No