Ram Chandrasekar

TL;DR: A 2‐tier system using the dried blood spot to first assess CK with follow‐up DMD gene testing is introduced to assess CK in Duchenne muscular dystrophy.

TL;DR: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

TL;DR: False-positive newborn-screening rates are disproportionately increased in VLBW infants and may be reduced by delaying screening of <32 weeks' gestation, preterm infants until 24 to 48 hours' postnatal age.

TL;DR: Sequencing of ACADM in six neonates with elevated C8 on NBS who died before confirmatory testing was obtained did not identify any significant variants in the coding region of the gene, suggesting that MCADD was not a contributing factor in these deaths.