Avis McWhinney

A seven-year review of the RCPAQAP dried bloodspot external quality assurance program

Natasha Robbins, Peter Graham, Lawrence Greed, Natasha Heather et autres

au, nz (code pays fourni par la source)

Post-analytical practices in clinical mass spectrometry laboratories: an international survey across 57 countries

Brett McWhinney, Avis McWhinney, Danijela Kocic, Damien Gruson et autres

OBJECTIVES: Liquid chromatography-tandem mass spectrometry (LC-MS/MS) is increasingly used in clinical laboratories due to its high analytical specificity and multiplexing capabilities. While the pre-analytical and analytical phases have seen significant advances in automation, the post-analytical phase remains a bottleneck with limited standardisation. …

hk, cn, au, be (code pays fourni par la source)

Australasian guideline for the performance of sweat chloride testing 3rd edition: to support cystic fibrosis screening, diagnosis and monitoring

John Massie, Avis McWhinney, Lawrence Greed, Natasha Robbins et autres

The sweat test is used as a biological marker of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction, but there is growing recognition that sweat chloride concentrations of people with cystic fibrosis (CF) can overlap with those without CF. There are also people …

au, nz (code pays fourni par la source)

Australasian Guideline for the Performance of Sweat Chloride Testing 3rd Edition: to Support Cystic Fibrosis Screening, Diagnosis and Monitoring

John Massie, Avis McWhinney, Lawrence Greed, Natasha Robbins et autres

The sweat test is used as a biological marker of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction, but there is growing recognition that sweat chloride concentrations of people with cystic fibrosis (CF) can overlap with those without CF. There are also people …

Is sweat conductivity still a relevant screening test for cystic fibrosis? Participation over 10 years

Natasha Robbins, John Massie, Avis McWhinney, Natasha Heather et autres

Article Is sweat conductivity still a relevant screening test for cystic fibrosis? Participation over 10 years was published on January 2, 2025 in the journal Clinical Chemistry and Laboratory Medicine (CCLM) (volume 63, issue 2).

au, nz (code pays fourni par la source)

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia

Kalliope Demetriou, Janelle Nisbet, David Coman, Adam D. Ewing et autres

Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neonatal period to advanced adulthood. Historically, some …

au (code pays fourni par la source)

Modified turbidometric microassay for the measurement of sulfate in plasma and urine

Prasidhee Vijayakumar, Avis McWhinney, Yvonne A. Eiby, Paul A. Dawson

Sulfate is the fourth most abundant anion in circulation. Despite being an essential nutrient for healthy growth and development, sulfate is not routinely measured in clinical settings. In research settings, animal studies have shown that hyposulfatemia and hypersulfaturia are associated with adverse …

au (code pays fourni par la source)

Evaluation of an Ion Chromatography Method for Quantitating Sulfate in Plasma, Serum and Urine

Paul A. Dawson, Avis McWhinney, Matthew Reimer, Francis Bowling

Rapid amino acid quantitation with pre-column derivatization; ultra-performance reverse phase liquid chromatography and single quadrupole mass spectrometry

Carel Pretorius, Brett McWhinney, Bilyana Sipinkoski, Alice Wilce et autres

au (code pays fourni par la source)

First steps in the harmonisation of adult plasma amino acid reference intervals in Australasia

Mark de Hora, James Pitt, Avantika Mishra, Beena Devanapalli et autres

au (code pays fourni par la source)

Reference intervals for plasma sulfate and urinary sulfate excretion in pregnancy

Paul A. Dawson, Scott Petersen, Robyn Rodwell, P. C. Johnson et autres

BACKGROUND: Sulfate is important for fetal growth and development. During pregnancy, the fetus relies on sulfate from the maternal circulation. We report reference intervals for maternal plasma sulfate levels and fractional excretion index (FEI) for sulfate in pregnancy, as well as sulfate …

au (code pays fourni par la source)

Resuscitation of a Neonate With Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Using Extracorporeal Life Support

Gaurav Kumar, Adrian Mattke, Frank Bowling, Avis McWhinney et autres

We report a neonate with medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD) who had a cardiac arrest due to ventricular tachycardia and fibrillation. Extracorporeal life support (ECLS) was deployed, from which the baby was subsequently separated and discharged from hospital. This case …

au (code pays fourni par la source)