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List of works by Hilary Vallance

6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

scientific article published in July 2005

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.

scientific article

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

scientific article published on March 2003

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

scientific article published on 09 June 2006

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations

scholarly article by Mehul A. Sharma published in August 2018

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

scientific article published on 7 May 2016

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

scientific article published on 31 January 2012

An improved method for quantification of very long chain fatty acids in plasma

scientific article published on 01 June 1994

Are patients with homocystinuria being missed?

scientific article published on 01 July 1995

Atypical cerebral palsy: genomics analysis enables precision medicine

scientific article published on 13 December 2018

Biochemical approach to the investigation of pediatric mitochondrial disease

scientific article

CASE REPORT: Novel Point Mutation (W184R) in Neonatal Type 2 Gaucher Disease

scientific article published on 01 March 2000

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

scientific article

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

scientific article published on 22 October 2012

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

scientific article published in January 2004

Carrier testing for autosomal-recessive disorders

scientific article published on August 2003

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

scientific article published in February 2008

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

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification

scientific article

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

scientific article published on February 1997

Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine

article

Early amniocentesis for biochemical genetic prenatal diagnosis

scientific article published in The Lancet

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

article

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

scientific article

Identification of 6 new mutations in the iduronate sulfatase gene

article

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online

scientific article published on 01 January 1999

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)

scientific article published on 16 October 2008

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

scientific article

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

Is it time to consider LC–MS/MS measurement of mucopolysaccharides as the first line screening test for Sanfilippo disease?

scientific article published in 2014

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

scientific article published on 22 February 2011

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

scientific article published on 01 July 2012

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency

scientific article

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

scientific article published on 23 January 2013

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine

scientific article published on 03 May 2018

Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes

scientific article published on 01 January 1994

Methylmalonic aciduria: A common incidental finding in infants undergoing metabolic investigation

scientific article published in 2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results

scientific article

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

scientific article published on 21 September 2005

Newborn screening by tandem mass spectrometry: ethical and social issues.

scientific article published in July 2007

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

scientific article

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

scientific article published on January 2017

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Prediction of obstetrical risk using maternal serum markers and clinical risk factors.

scientific article published on 11 December 2013

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

scientific article published on 18 September 2017

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

scientific article

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease

scientific article published in 2014

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

scientific article published on 31 March 2016

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy

scientific article published on 01 October 2019

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test

scientific article published on 14 November 2007

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

scientific article published on 20 December 2018

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

scientific article

The Brugada ECG Pattern in a Neonate

article published in 2005

The Liver Biopsy and the Jaundiced Infant

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation

scientific article published on 06 August 2018

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

scientific article (publication date: April 2009)

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

scientific article published on 29 May 2013

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

scientific article published on 22 July 2016

Variability in the storage and use of newborn dried bloodspots in Canada: is it time for national standards?

scientific article published on 15 December 2006

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