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Evaluation of volumetric blood collection devices for the measurement of phenylalanine and tyrosine to monitor patients with phenylketonuria

Clinica chimica acta, 2022-10, Vol.535, p.157-166

2022

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Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders

International journal of neonatal screening, 2020-06, Vol.6 (2), p.26

2020

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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

International journal of neonatal screening, 2023-03, Vol.9 (1), p.15

2023

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A Machine Learning Approach for the Automated Interpretation of Plasma Amino Acid Profiles

Clinical chemistry (Baltimore, Md.), 2020-09, Vol.66 (9), p.1210-1218

2020

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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

Clinical chemistry (Baltimore, Md.), 2022-07, Vol.68 (8), p.1075-1083

2022

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Validation of a rapid, comprehensive and clinically relevant amino acid profile by underivatised liquid chromatography tandem mass spectrometry

Clinical chemistry and laboratory medicine, 2020-05, Vol.58 (5), p.758

2020

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Validation of a liquid chromatography tandem mass spectrometry method for the simultaneous determination of hydroxychloroquine and metabolites in human whole blood

Clinical chemistry and laboratory medicine, 2020-09, Vol.58 (12), p.2047

2020

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Processing of positive newborn screening results: a qualitative exploration of current practice in England

BMJ open, 2020-12, Vol.10 (12), p.e044755-e044755

2020

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Automation of tacrolimus measurement on volumetric absorptive microsampling devices by tandem mass spectrometry

Bioanalysis, 2022-12, Vol.14 (23), p.1487-1496

2022

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Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.179-188

2020

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Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria

Annals of clinical biochemistry, 2023-05, Vol.60 (3), p.208

2023

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Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices

JIMD reports, 2023-11, Vol.64 (6), p.468-476

2023

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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

Annals of clinical biochemistry, 2020-07, Vol.57 (4), p.277-290

2020

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Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use

Clinical chemistry and laboratory medicine, 2023-01, Vol.61 (2), p.302

2023

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Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker

JIMD reports, 2024-07, Vol.65 (4), p.255-261

2024

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Disability and Social Movements: Learning from Australian Experiences

Carling-Jenkins, Rachel

1, 2014

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Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach

International journal of neonatal screening, 2023-12, Vol.10 (1), p.2

2023

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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

International journal of neonatal screening, 2024-03, Vol.10 (1), p.24

2024

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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

International journal of neonatal screening, 2020-11, Vol.6 (4), p.92

2020

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Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia

International journal of neonatal screening, 2018-03, Vol.4 (1), p.8-8

2018

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A high throughput immuno-affinity mass spectrometry method for detection and quantitation of SARS-CoV-2 nucleoprotein in human saliva and its comparison with RT-PCR, RT-LAMP, and lateral flow rapid antigen test

Clinical chemistry and laboratory medicine, 2024-05, Vol.62 (6), p.1206

2024

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Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders

International journal of neonatal screening, 2020-03, Vol.6 (2)

2020

Volltextzugriff (PDF)

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

JIMD Reports, Volume 38, 2018-01, Vol.38, p.75-80

2018

Volltextzugriff (PDF)

'Do You Think I'm Stupid?': Urban Encounters between People with and without Intellectual Disability

Urban studies (Edinburgh, Scotland), 2013-09, Vol.50 (12), p.2391-2406

2013

Volltextzugriff (PDF)

Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.149-152

2010

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Evaluation of volumetric blood collection devices for the measurement of phenylalanine and tyrosine to monitor patients with phenylketonuria

Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

A Machine Learning Approach for the Automated Interpretation of Plasma Amino Acid Profiles

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

Validation of a rapid, comprehensive and clinically relevant amino acid profile by underivatised liquid chromatography tandem mass spectrometry

Validation of a liquid chromatography tandem mass spectrometry method for the simultaneous determination of hydroxychloroquine and metabolites in human whole blood

Processing of positive newborn screening results: a qualitative exploration of current practice in England

Automation of tacrolimus measurement on volumetric absorptive microsampling devices by tandem mass spectrometry

Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria

Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices

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

Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker

Disability and Social Movements: Learning from Australian Experiences

Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach

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

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

Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia

A high throughput immuno-affinity mass spectrometry method for detection and quantitation of SARS-CoV-2 nucleoprotein in human saliva and its comparison with RT-PCR, RT-LAMP, and lateral flow rapid antigen test

Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders

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

'Do You Think I'm Stupid?': Urban Encounters between People with and without Intellectual Disability

Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders

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