Publications by authors named "Howard Potter"

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The genetics of motor neuron disease in New Zealand.
Miran Mrkela, Miriam Rodrigues, Serey Naidoo, Jules B L Devaux, Siobhan E Kirk, Howard Potter

J Neurol Sci· July 2025

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Mitochondrial disease in New Zealand: a nationwide prevalence study.
Sarah Missen, Callum Wilson, Howard Potter, Andrea L Vincent, Rinki Murphy

Intern Med J· March 2024

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Discordant thyroid function tests-beware of albumin variants.
Bobby Li, Marianne Elston, Jordyn Moore, Stephen du Toit, Howard Potter

N Z Med J· January 2024

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Two cases of discordant thyroid function tests: familial dysalbuminaemic hyperthyroxinaemia and dystransthyretinaemic hyperthyroxinaemia.
Bobby Li, Jordyn Moore, Howard Potter, Stephen du Toit, Kingsley Nirmalaraj

Intern Med J· January 2023

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Increased Peripheral Blood Heteroplasmy of the mt.3243A>G Mutation Is Associated with Earlier End-Stage Kidney Disease: A Case Report and Review of the Literature.
James A D Shand, Howard C Potter, Helen L Pilmore, Tim Cundy, Rinki Murphy

Nephron· August 2021

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Nephrogenic syndrome of inappropriate antidiuresis.
Ashik Hayat, Christopher Florkowski, Abhijit Kolla, Howard Potter

Intern Med J· May 2019

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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Hannah Kennedy, Tobias B Haack, Verity Hartill, Lavinija Mataković, E Regula Baumgartner, Howard Potter

Am J Hum Genet· September 2016

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Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis.
Joshua B Ryan, Stephen O Brennan, Howard Potter, Louise Wolmarans, Christopher M Florkowski

Ann Clin Biochem· July 2016

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Unique albumin with two silent substitutions (540Thr→Ala and 546Ala→Ser): Insights into how albumin is recycled.
Stephen O Brennan, Howard C Potter, Campbell R Sheen, Peter M George

Clin Chim Acta· June 2016

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Bisalbuminaemia due to novel mutation at a critical residue involved in recycling; Albumin Lyon (510His→Arg).
Stephen O Brennan, Howard C Potter, Michel Hanss

Clin Biochem· May 2016

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Novel silent albumin variant (191Ala→Thr) detected by TOF MS of whole plasma.
Stephen O Brennan, Catherine Rollo, Howard C Potter

Clin Chim Acta· February 2015

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Association between endothelin type A receptor haplotypes and mortality in coronary heart disease.
Katrina L Ellis, Anna P Pilbrow, Howard C Potter, Chris M Frampton, Rob N Doughty

Per Med· May 2012

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Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland.
Natasha Heather, Kate Hall, Katherine Neas, Howard Potter, Esko Wiltshire

Pediatrics· March 2012

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Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis.
Steven Soule, Chris Florkowski, Howard Potter, David Pattison, Martin Swan

Ann Clin Biochem· September 2008

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Clinical indications for the investigation of porphyria: case examples and evolving laboratory approaches to its diagnosis in New Zealand.
Christiaan Sies, Christopher Florkowski, Peter George, Howard Potter

N Z Med J· September 2005

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Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations.
Christiaan W Sies, James S Davidson, Christopher M Florkowski, Roger N Johnson, Howard C Potter

Pathology· August 2005

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Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases.
Dean Kilfoyle, David Hutchinson, Howard Potter, Peter George

N Z Med J· February 2005

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Contamination of Qiagen DNA extraction kits with Legionella DNA.
Gloria E Evans, David R Murdoch, Trevor P Anderson, Howard C Potter, Peter M George

J Clin Microbiol· July 2003

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Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant.
Stephen O Brennan, Howard C Potter, Lia M Kubala, Susan A Carnoutsos, Martin M Ferguson

Hemoglobin· February 2002

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