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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

Nephron (2015), 2020, Vol.144 (7), p.1-362

2020

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Novel silent albumin variant (191Ala→Thr) detected by TOF MS of whole plasma

Clinica chimica acta, 2015-02, Vol.440, p.40-43

2015

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Bisalbuminaemia due to novel mutation at a critical residue involved in recycling; Albumin Lyon (510His→Arg)

Clinical biochemistry, 2016-05, Vol.49 (7-8), p.544-547

2016

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Unique albumin with two silent substitutions (540Thr→Ala and 546Ala→Ser): Insights into how albumin is recycled

Clinica chimica acta, 2016-06, Vol.457, p.125-129

2016

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HLA-B27 real-time PCR using TaqMan-MGB sequence specific probes

New Zealand journal of medical laboratory science, 2014-04, Vol.68 (1), p.4-8

2014

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Time-of-flight mass spectrometry in the diagnosis of haemoglobin Kenya

Pathology, 2021-07, Vol.53, p.S45-S45

2021

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Contamination of Qiagen DNA extraction kits with Legionella DNA

Journal of clinical microbiology, 2003-07, Vol.41 (7), p.3452-3453

2003

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Discordant thyroid function tests-beware of albumin variants

New Zealand medical journal, 2024-01, Vol.137 (1588), p.90-93

2024

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Nephrogenic syndrome of inappropriate antidiuresis

Internal medicine journal, 2019-05, Vol.49 (5), p.680-681

2019

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Two cases of discordant thyroid function tests: familial dysalbuminaemic hyperthyroxinaemia and dystransthyretinaemic hyperthyroxinaemia

Internal medicine journal, 2023-01, Vol.53 (1), p.152-154

2023

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Pseudo-hypertriglyceridaemia due to a novel mutation in the glycerol kinase (GK) gene

Pathology, 2019-02, Vol.51, p.S109-S110

2019

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Mitochondrial disease in New Zealand: a nationwide prevalence study

Internal medicine journal, 2024-03, Vol.54 (3), p.388-397

2024

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Association between endothelin type A receptor haplotypes and mortality in coronary heart disease

Personalized medicine, 2012-05, Vol.9 (3), p.341-349

2012

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Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland

Pediatrics (Evanston), 2012-03, Vol.129 (3), p.e817

2012

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Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis

Annals of clinical biochemistry, 2016-07, Vol.53 (4), p.504-507

2016

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Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations

Pathology, 2005-08, Vol.37 (4), p.324-326

2005

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Immune response to an 18-kilodalton outer membrane antigen identifies lipoprotein 20 as a Helicobacter pylori vaccine candidate

Infection and immunity, 2000-06, Vol.68 (6), p.3337-3343

2000

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Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis

Annals of clinical biochemistry, 2008-09, Vol.45 (Pt 5), p.520

2008

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Catalytic parameters for the hydrolysis of butyrylthiocholine by human serum butyrylcholinesterase variants

Chemico-biological interactions, 1999-05, Vol.119-120, p.165-171

1999

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Hb CANTERBURY [β112(G14)Cys → Phe]: A NEW, MILDLY UNSTABLE VARIANT

Hemoglobin, 2002-01, Vol.26 (1), p.67-69

2002

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Clinical indications for the investigation of porphyria : case examples and evolving laboratory approaches to its diagnosis in New Zealand

New Zealand medical journal, 2005-09, Vol.118 (1222), p.U1658-U1658

Sies, Christiaan

2005

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Discordant thyroid function tests-beware of albumin variants

The New Zealand medical journal, 2024, Vol.137 (1588), p.90-93

2024

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Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency : clinical, biochemical, and genetic features of adult-onset cases

New Zealand medical journal, 2005-02, Vol.118 (1210), p.7p

Kilfoyle, Dean

2005

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Two cases of discordant thyroid function tests: familial dysalbuminaemic hyperthyroxinaemia and dystransthyretinaemic hyperthyroxinaemia

Internal medicine journal, 2023, Vol.53 (1), p.152-154

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

Novel silent albumin variant (191Ala→Thr) detected by TOF MS of whole plasma

Bisalbuminaemia due to novel mutation at a critical residue involved in recycling; Albumin Lyon (510His→Arg)

Unique albumin with two silent substitutions (540Thr→Ala and 546Ala→Ser): Insights into how albumin is recycled

HLA-B27 real-time PCR using TaqMan-MGB sequence specific probes

Time-of-flight mass spectrometry in the diagnosis of haemoglobin Kenya

Contamination of Qiagen DNA extraction kits with Legionella DNA

Discordant thyroid function tests-beware of albumin variants

Nephrogenic syndrome of inappropriate antidiuresis

Two cases of discordant thyroid function tests: familial dysalbuminaemic hyperthyroxinaemia and dystransthyretinaemic hyperthyroxinaemia

Pseudo-hypertriglyceridaemia due to a novel mutation in the glycerol kinase (GK) gene

Mitochondrial disease in New Zealand: a nationwide prevalence study

Association between endothelin type A receptor haplotypes and mortality in coronary heart disease

Growth and development in a child with resistance to thyroid hormone and ectopic thyroid gland

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis

Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations

Immune response to an 18-kilodalton outer membrane antigen identifies lipoprotein 20 as a Helicobacter pylori vaccine candidate

Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis

Catalytic parameters for the hydrolysis of butyrylthiocholine by human serum butyrylcholinesterase variants

Hb CANTERBURY [β112(G14)Cys → Phe]: A NEW, MILDLY UNSTABLE VARIANT

Clinical indications for the investigation of porphyria : case examples and evolving laboratory approaches to its diagnosis in New Zealand

Discordant thyroid function tests-beware of albumin variants

Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency : clinical, biochemical, and genetic features of adult-onset cases

Two cases of discordant thyroid function tests: familial dysalbuminaemic hyperthyroxinaemia and dystransthyretinaemic hyperthyroxinaemia

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