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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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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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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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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

Volltextzugriff (PDF)

Disability and Social Movements: Learning from Australian Experiences

Carling-Jenkins, Rachel

1, 2014

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

Experiences of supporting people with Down syndrome and Alzheimer's disease in aged care and family environments

Journal of intellectual & developmental disability, 2012-03, Vol.37 (1), p.54-60

2012

Volltextzugriff (PDF)

New Social Movements from which Disability can Learn

Disability and Social Movements, 2014, p.67-104

1, 2014

Volltextzugriff (PDF)

The Australian Disability Rights Movement(s)

Disability and Social Movements, 2014, p.105-136

1, 2014

Volltextzugriff (PDF)

Positioning Disability in Australia

Disability and Social Movements, 2014, p.1-14

1, 2014

Volltextzugriff (PDF)

Philosophy and Disability

Disability and Social Movements, 2014, p.15-26

1, 2014

Volltextzugriff (PDF)

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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

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

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

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

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

Experiences of supporting people with Down syndrome and Alzheimer's disease in aged care and family environments

New Social Movements from which Disability can Learn

The Australian Disability Rights Movement(s)

Positioning Disability in Australia

Philosophy and Disability

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