Avinash Abhyankar Michelle Lamendola-Essel Kelly Brennan Jessica L Giordano Cecilia Esteves Vanessa Felice Ronald Wapner Vaidehi Jobanputra
10.1002/ccr3.1284
Clin Case Rep
2017 Dec 15;6(1):200-205.
archived newborn blood spot asparagine synthetase asparagine synthetase deficiency dried blood spot whole exome sequencing
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29375865/
Case Reports
PMC5771929
29375865
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
2017