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