• Media type: E-Article
  • Title: Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
  • Contributor: Alharby, Essa; Faqeih, Eissa A.; Saleh, Mohammed; Alameer, Seham; Almuntashri, Makki; Pastore, Annalisa; Samman, Manar A.; Alnawfal, Abdullah M.; Hashem, Mais; Zaytuni, Dimah; Alharbi, Ghadeer; Almannai, Mohammed; Alasmari, Ali; Mahmoud, Adel A.; Alwadei, Ali H.; Jad, Lamya; AlOtaibi, Ali; Al-Hakami, Fahad; Eyaid, Wafaa; Alkuraya, Fowzan S.; Alfadhel, Majid; Peake, Roy W.A.; Almontashiri, Naif A.M.
  • Published: Elsevier BV, 2020
  • Published in: Genetics in Medicine, 22 (2020) 12, Seite 2071-2080
  • Language: English
  • DOI: 10.1038/s41436-020-0919-x
  • ISSN: 1098-3600
  • Origination:
  • Footnote:
  • Access State: Open Access