James J. Pitt

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 55 publications

Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity.

Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity.

Journal: Clinical chemistry and laboratory medicine

Published: March 17, 2026

Identification of Primary Hyperoxaluria Type III by Gas Chromatography/Mass Spectrometry-Based Urine Metabolomics.

Identification of Primary Hyperoxaluria Type III by Gas Chromatography/Mass Spectrometry-Based Urine Metabolomics.

Journal: Metabolites

Published: February 09, 2026

A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel.

A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel.

Journal: International journal of neonatal screening

Published: January 30, 2026

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems.

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems.

Journal: Epigenomics

Published: August 13, 2025

Review: Utility of mass spectrometry in rare disease research and diagnosis.

Review: Utility of mass spectrometry in rare disease research and diagnosis.

Journal: NPJ genomic medicine

Published: December 18, 2024

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Journal: Epigenomics

Published: October 04, 2024

Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates.

Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates.

Journal: International journal of neonatal screening

Published: July 04, 2024

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Journal: Molecular genetics and metabolism

Published: May 03, 2024

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.

Journal: International journal of neonatal screening

Published: April 19, 2024

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

Journal: Journal of inherited metabolic disease

Published: January 05, 2024

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Journal: The Journal of clinical investigation

Published: September 06, 2023

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation.

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation.

Journal: International journal of neonatal screening

Published: July 30, 2023

Showing 1-12 of 55

Last Updated: 09/26/2026