Publications by authors named "Mark De Hora"

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Expanded Steroid Profiling Identifies Novel Newborn Screening Markers for Congenital Adrenal Hyperplasia.
Mark R de Hora, Eric Thorstensen, Natasha L Heather, Benjamin Albert, Dianne Webster

J Clin Endocrinol Metab· July 2025

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Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Isaac Bernhardt, Leah E Frajman, Bryony Ryder, Erik Andersen, Callum Wilson, Mark De Hora

Mol Genet Metab· July 2024

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Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand.
Natasha Heather, Ronda F Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Mark de Hora

Int J Neonatal Screen· July 2024

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The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives.
Mark de Hora, Natasha Heather, Dianne Webster, Benjamin Albert, Paul Hofman

Front Endocrinol (Lausanne)· October 2023

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The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.
Isaac Bernhardt, Emma Glamuzina, Bryony Ryder, Detlef Knoll, Natasha Heather, Mark De Hora

JIMD Rep· March 2023

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Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand.
Mark R de Hora, Natasha L Heather, Dianne R Webster, Benjamin B Albert, Paul L Hofman

Int J Neonatal Screen· October 2022

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Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results.
Natasha Heather, Lisa Morgan, Detlef Knoll, Keith Shore, Mark de Hora

Int J Neonatal Screen· May 2022

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Introducing Newborn Screening for Severe Combined Immunodeficiency-The New Zealand Experience.
Natasha Heather, Mark de Hora, Shannon Brothers, Pippa Grainger, Detlef Knoll

Int J Neonatal Screen· May 2022

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Birth Weight- or Gestational Age-adjusted Second-tier LCMSMS Cutoffs Improve Newborn Screening for CAH in New Zealand.
Mark R de Hora, Natasha L Heather, Dianne Webster, Benjamin B Albert, Paul L Hofman

J Clin Endocrinol Metab· August 2021

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Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand.
Mark R de Hora, Natasha L Heather, Tejal Patel, Lauren G Bresnahan, Dianne Webster

Clin Endocrinol (Oxf)· June 2021

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Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand.
Mark R de Hora, Natasha L Heather, Tejal Patel, Lauren G Bresnahan, Dianne Webster

Int J Neonatal Screen· March 2020

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The decision to discontinue screening for carnitine uptake disorder in New Zealand.
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina

J Inherit Metab Dis· January 2019

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Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism.
Natasha L Heather, Paul L Hofman, Mark de Hora, Joan Carll, José G B Derraik

Clin Endocrinol (Oxf)· March 2017

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The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina

JIMD Rep· December 2016

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The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Bryony Ryder, Detlef Knoll, Donald R Love, Phillip Shepherd, Jennifer M Love, Mark de Hora

J Inherit Metab Dis· May 2016

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Fasting nonesterified fatty acid profiles in childhood and their relationship with adiposity, insulin sensitivity, and lipid levels.
Matthew A Sabin, Mark De Hora, Jeff M P Holly, Linda P Hunt, Anna L Ford

Pediatrics· December 2007

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