Rachel S. Carling
0000-0003-1988-3088
25 papers found
Refreshing results…
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria
Automation of tacrolimus measurement on volumetric absorptive microsampling devices by tandem mass spectrometry
Improving Harmonization and Standardization of Expanded Newborn Screening Results by Optimization of the Legacy Flow Injection Analysis Tandem Mass Spectrometry Methods and Application of a Standardized Calibration Approach
Processing of positive newborn screening results: a qualitative exploration of current practice in England
Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration
Validation of a liquid chromatography tandem mass spectrometry method for the simultaneous determination of hydroxychloroquine and metabolites in human whole blood
A Machine Learning Approach for the Automated Interpretation of Plasma Amino Acid Profiles
Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders
Challenging the status quo: A comparison of ion exchange chromatography with liquid chromatography–mass spectrometry and liquid chromatography–tandem mass spectrometry methods for the measurement of amino acids in human plasma
Validation of a rapid, comprehensive and clinically relevant amino acid profile by underivatised liquid chromatography tandem mass spectrometry
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria
Methods for assessment of biotin (Vitamin B7)
Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders
Missing publications? Search for publications with a matching author name.