Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study.
Ajay PatialArushi Gahlot SainiRajdeep KaurSeema KapoorSheetal ShardaPraveen KumarSunit SinghiPratibha SinghiIsha DwivediVivek Singh MalikMini TagejaGunjan DidwalGursimran KaurBijo VarugheseSavita Verma AttriPublished in: Indian journal of pediatrics (2022)
IEMs are common in India, with a hospital-based incidence of 1 in approximately 6642 among high-risk children. Screening of high-risk children by mass spectrometry techniques is a valuable strategy for early diagnosis of IEMs where universal newborn screening is not yet available.