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Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK)

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1049-1053

2013

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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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Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy

Clinical chemistry (Baltimore, Md.), 2017-04, Vol.63 (4), p.908-914

2017

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Risk of COVID-19 in people with multiple sclerosis who are seronegative following vaccination

Multiple sclerosis, 2023-07, Vol.29 (8), p.979-989

2023

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Maternal SARS-CoV-2 sero-surveillance using newborn dried blood spot (DBS) screening specimens highlights extent of low vaccine uptake in pregnant women

Human vaccines & immunotherapeutics, 2022-11, Vol.18 (5), p.2089498-2089498

2022

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Folic acid improves endothelial function in coronary artery disease via mechanisms largely independent of homocysteine lowering

Circulation (New York, N.Y.), 2002, Vol.105 (1), p.22-26

2002

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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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Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen

International journal of neonatal screening, 2023-09, Vol.9 (3), p.52

2023

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Folate, homocysteine, endothelial function and cardiovascular disease

The Journal of nutritional biochemistry, 2004-02, Vol.15 (2), p.64-79

2004

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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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Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis

Clinical chemistry (Baltimore, Md.), 2016-03, Vol.62 (3), p.466-475

2016

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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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A computer vision approach to the assessment of dried blood spot size and quality in newborn screening

Clinica chimica acta, 2023-07, Vol.547, p.117418-117418, Article 117418

2023

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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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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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Plasma total homocysteine: instigator or indicator of cardiovascular disease?

Annals of clinical biochemistry, 2008-07, Vol.45 (Pt 4), p.345

Moat, Stuart J

2008

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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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An Analysis of Serological Response and Infection Outcomes Following Oxford-AstraZeneca (AZD1222) and Pfizer-BioNTech (mRNA BNT162b2) SARS-CoV-2 Vaccines in Kidney and Kidney-pancreas Transplants

Transplantation, 2022-07, Vol.106 (7), p.1421

2022

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Cystic fibrosis newborn screening: the importance of bloodspot sample quality

Archives of disease in childhood, 2021-03, Vol.106 (3), p.253

2021

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Development of a high-throughput SARS-CoV-2 antibody testing pathway using dried blood spot specimens

Annals of clinical biochemistry, 2021-03, Vol.58 (2), p.123-131

2021

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Effect of Riboflavin Status on the Homocysteine-lowering Effect of Folate in Relation to the MTHFR (C677T) Genotype

Clinical chemistry (Baltimore, Md.), 2003-02, Vol.49 (2), p.295-302

2003

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Effect of blood volume on analytical bias in dried blood spots prepared for newborn screening external quality assurance

Bioanalysis, 2020-01, Vol.12 (2), p.99-109

2020

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Plasma Methylmalonic Acid Concentration in Folic Acid–Supplemented Depressed Patients with Low or Marginal Vitamin B-12: A Randomized Trial

The Journal of nutrition, 2021-12, Vol.151 (12), p.3738-3745

2021

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Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK)

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

Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy

Risk of COVID-19 in people with multiple sclerosis who are seronegative following vaccination

Maternal SARS-CoV-2 sero-surveillance using newborn dried blood spot (DBS) screening specimens highlights extent of low vaccine uptake in pregnant women

Folic acid improves endothelial function in coronary artery disease via mechanisms largely independent of homocysteine lowering

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

Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen

Folate, homocysteine, endothelial function and cardiovascular disease

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

Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis

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

A computer vision approach to the assessment of dried blood spot size and quality in newborn screening

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

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

Plasma total homocysteine: instigator or indicator of cardiovascular disease?

COVID‐19 Vaccine Response in People with Multiple Sclerosis

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

An Analysis of Serological Response and Infection Outcomes Following Oxford-AstraZeneca (AZD1222) and Pfizer-BioNTech (mRNA BNT162b2) SARS-CoV-2 Vaccines in Kidney and Kidney-pancreas Transplants

Cystic fibrosis newborn screening: the importance of bloodspot sample quality

Development of a high-throughput SARS-CoV-2 antibody testing pathway using dried blood spot specimens

Effect of Riboflavin Status on the Homocysteine-lowering Effect of Folate in Relation to the MTHFR (C677T) Genotype

Effect of blood volume on analytical bias in dried blood spots prepared for newborn screening external quality assurance

Plasma Methylmalonic Acid Concentration in Folic Acid–Supplemented Depressed Patients with Low or Marginal Vitamin B-12: A Randomized Trial

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