Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Essa AlharbyEissa A FaqeihMohammed SalehSeham AlameerMakki AlmuntashriAnnalisa PastoreManar A SammanAbdullah M AlnawfalMais HashemDimah ZaytuniGhadeer AlharbiMohammed AlmannaiAli AlasmariAdel A MahmoudAli H AlwadeiLamya JadAli AlOtaibiFahad Al-HakamiWafaa EyaidFowzan S AlkurayaMajid AlfadhelRoy W A PeakeNaif A M AlmontashiriPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our study describes the largest reported ASNSD cohort with clinical, molecular, and biochemical characterization. Taking into consideration the suboptimal sensitivity of biochemical screening, the delineation of the phenotype variant spectrum is of diagnostic utility for accurate diagnosis, prognosis, counseling, and carrier screening.