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List of works by Devin Oglesbee

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening

scientific article

A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh

article

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

scientific article published on 11 September 2017

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

scientific article published on 24 March 2020

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

scientific article published in March 2011

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry ⬇️

scientific article published on August 31, 2010

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

scientific article published on 07 February 2020

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

scientific article

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

scientific article published on 10 July 2016

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

scientific article published on 10 April 2020

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