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One or more keywords matched the following items that are connected to Sahai, Inderneel
Item TypeName
Academic Article Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.
Academic Article Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India.
Academic Article Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
Academic Article Case records of the Massachusetts General Hospital. Case 12-2011. A 9-month-old boy with acute liver failure.
Academic Article Enhanced interpretation of newborn screening results without analyte cutoff values.
Academic Article A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.
Academic Article Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.
Academic Article Newborn screening.
Academic Article Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Academic Article The increased incidence of congenital hypothyroidism: fact or fancy?
Academic Article Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
Concept Infant, Newborn
Concept Infant, Newborn, Diseases
Concept Neonatal Screening
Academic Article Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.
Academic Article Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Academic Article Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia.
Academic Article Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
Academic Article Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.
Academic Article Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Academic Article Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Search Criteria
  • Newborn
  • screening
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.