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Search Results to Shawn E. McCandless

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One or more keywords matched the following items that are connected to McCandless, Shawn

Item TypeName
Academic Article Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Concept Neonatal Screening
Academic Article The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Academic Article Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
Academic Article Stopping Parenteral Nutrition for 3 Hours Reduces False Positives in Newborn Screening.
Academic Article Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.
Academic Article A primer on expanded newborn screening by tandem mass spectrometry.
Academic Article Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.
Academic Article The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
Academic Article The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
Grant Pathophysiology and Treatment of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Academic Article Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Academic Article Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Academic Article Mandatory newborn screening in the United States: History, current status, and existential challenges.

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  • Neonatal Screening

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