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List of works by Dianne Webster

A novel therapeutic paradigm to treat congenital hypothyroidism.

scientific article published in July 2008

Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency ⬇️

scientific article published on October 1, 1978

Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism ⬇️

scientific article published on February 15, 1988

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities

scientific article

An inborn error of purine metabolism, deafness and neurodevelopmental abnormality

scientific article published in May 1985

Antenatal screening for aneuploidy--surveying the current situation and planning for non-invasive prenatal diagnosis in New Zealand

scientific article

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

scientific article published in March 2011

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

article

Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009

scientific article published on January 20, 2012

Dimethoate inhibits steroidogenesis by disrupting transcription of the steroidogenic acute regulatory (StAR) gene

scientific article

EHNA is a poor inhibitor of deoxyadenosine catabolism in cultured human lymphocytes

scientific article published on 01 March 1985

Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency

scientific article published on 01 November 1982

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993-2010.

scientific article published on 20 June 2012

Evaluation of the revised New Zealand national newborn screening protocol for congenital hypothyroidism

scientific article

Evidence of a new syndrome involving hereditary uric acid over-production, neurological complications and deafness

scientific article published on 01 January 1984

Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency

scientific article published on 01 January 1984

Feasibility study assessing equitable delivery of newborn pulse oximetry screening in New Zealand's midwifery-led maternity setting

scientific article published on 18 August 2019

Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency

scientific article published on May 1982

GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency

scientific article published on 01 March 1982

Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia

scientific article published on 01 March 1999

Gout resistant to allopurinol: poor compliance or non-response.

scientific article

Gout with apparent resistance to allopurinol

scientific article published in January 1983

Hereditary orotic aciduria: further biochemistry

scientific article published on 01 January 1986

Importance of platelet-free preparations for evaluating lymphocyte nucleotide levels in inherited or acquired immunodeficiency syndromes

scientific article published on December 1983

In that case: a Lead Maternity Carer (LMC) is discussing newborn health checks with a pregnant woman and her partner. Response

Inosine formation from hypoxanthine by intact erythrocytes and fibroblasts of an immunodeficient child with purine nucleoside phosphorylase deficiency

scientific article published on 01 January 1984

International developments in newborn screening quality assurance

scientific article published on 01 January 2003

It All Depends What You Count-The Importance of Definitions in Evaluation of CF Screening Performance

scientific article published on 10 June 2020

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

scientific article published on 28 January 2020

Methylthioadenosine phosphorylase activity in human erythrocytes

scientific article published on 01 March 1983

Minimising harm from newborn screening programmes.

scientific article

Missed congenital hypothyroidism in an identical twin

scientific article published on 12 September 2012

Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring.

scientific article published on 16 July 2013

Neurodevelopmental outcomes are normal in congenital hypothyroid children diagnosed early and treated aggressively over the first three years

New perspectives in the diagnosis and treatment of adenosine deaminase (ADA) deficiency

scientific article published on 01 January 1984

Newborn screening TSH values <15 mIU/L are not associated with long-term hypothyroidism or cognitive impairment

scientific article published on 29 June 2020

Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013.

scientific article published on 12 December 2014

Newborn screening in Australia and New Zealand.

scientific article published in January 2003

Nucleotide levels and metabolism of adenosine and deoxyadenosine in intact erythrocytes deficient in adenosine deaminase

scientific article published on January 1984

Nucleotide levels in peripheral blood mononuclear cells of immunodeficient children: problems of measurement

scientific article published on 01 January 1984

On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency

scientific article published on July 1983

Optimizing Bob Guthrie's legacy—Storage and use of residual newborn screening specimens ⬇️

scientific article published on 01 July 2011

Plasma ammonia concentrations in extremely low birthweight infants in the first week after birth: secondary analysis from the ProVIDe randomized clinical trial

scientific article published on 02 January 2020

Posthumous diagnosis of long QT syndrome from neonatal screening cards

article

Pregnancy in xanthinuria: demonstration of fetal uric acid production?

scientific article published on 01 January 1984

Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure

scientific article published on 01 January 1984

Pulse oximetry screening in a midwifery-led maternity setting with high antenatal detection of congenital heart disease

scientific article published on 08 August 2019

Purine and Pyrimidine Metabolism in Hereditary Oroticaciduria During a 15 Year Follow-Up Study ⬇️

scientific article published on January 1, 1979

Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol

scientific article published on 01 August 1980

Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge

scientific article published on 01 January 1984

Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency

scientific article published on 01 January 1981

Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood

scientific article published on 01 January 1983

Reciprocal relationship between erythrocyte ATP and deoxy-ATP levels in inherited ADA deficiency

scientific article published on 01 March 1982

SCID newborn screening in New Zealand

scholarly article published in February 2018

Screening Pathways through China, the Asia Pacific Region, the World

scientific article published on 22 August 2019

Should New Zealand introduce nationwide pulse oximetry screening for the detection of critical congenital heart disease in newborn infants?

scientific article published on 13 January 2017

Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency

scientific article published on 01 January 1980

Storage and use of residual dried blood spots.

scientific article

The Lesch-Nyhan syndrome: a family study

scientific article published on December 14, 1977

The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

scientific article published on 8 December 2016

The decision to discontinue screening for carnitine uptake disorder in New Zealand

scientific article published on 9 April 2018

The decision to discontinue screening for carnitine uptake disorder in New Zealand

scientific article published on 01 January 2019

The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening

scientific article published on 21 September 2007

The impact of demographic factors on newborn TSH levels and congenital hypothyroidism screening

scientific article published on 11 June 2019

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

scientific article published on 07 January 2016

Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders

scientific article published on 01 January 1987

Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy

scientific article

Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects.

scientific article published in January 1986

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