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, cilt.202, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 202
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.clineuro.2021.106506
  • Dergi Adı: Clinical Neurology and Neurosurgery
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: Adenylosuccinate lyase (ADSL) deficiency, Infant, Respiratory distress, Hypotonic infant, Seizure
  • Lokman Hekim Üniversitesi Adresli: Hayır