H. Vallance

发表

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

W. Sly, C. Ross, W. Wasserman, 2014, American journal of human genetics.

Exome Sequencing and the Management of Neurometabolic Disorders.

Andrea Superti-Furga, Rupasri Mandal, Wyeth W Wasserman, 2016, The New England journal of medicine.

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

C. Ross, W. Wasserman, A. Pshezhetsky, 2018, JCI insight.

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

K. Joseph, S. Langlois, H. Vallance, 2014, Prenatal diagnosis.

Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity.

Y. Lamers, Theresa H. Schroder, H. Vallance, 2019, The Journal of nutrition.

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

K. Al-Thihli, H. Vallance, G. Sinclair, 2014, Journal of Inherited Metabolic Disease.

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

G. Horvath, H. Vallance, Zeneng Wang, 2018, Molecular genetics and metabolism reports.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

John J. Mitchell, J. Little, K. Wilson, 2020, Orphanet Journal of Rare Diseases.

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

Y. Lamers, Theresa H. Schroder, S. Barr, 2017, British Journal of Nutrition.

A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation

D. Wallace, M. Brown, H. Vallance, 2004, Pediatric Cardiology.

Newborn Screening by Tandem Mass Spectrometry

B. Potter, C. Greenberg, D. Avard, 2007 .

Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia.

H. Vallance, G. Sinclair, A. Haim, 2020, The Journal of pediatrics.

Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.

H. Vallance, G. Sinclair, S. Stockler-Ipsiroglu, 2020, Paediatrics & child health.

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

Y. Lamers, Theresa H. Schroder, S. Barr, 2019, Clinical chemistry and laboratory medicine.

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

N. Longo, P. Waters, M. Pasquali, 2004, Journal of Inherited Metabolic Disease.

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

H. Vallance, G. Sinclair, L. Arbour, 2018, Paediatrics & child health.

Carnitine Palmitoyltransferase I and Sudden Unexpected Infant Death in British Columbia First Nations

H. Vallance, G. Sinclair, L. Arbour, 2012, Pediatrics.

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

F. Bamforth, C. Greenberg, A. Corriveau, 2010, Molecular genetics and metabolism.

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

R. Wanders, R. Wanders, P. Waters, 2009, Molecular genetics and metabolism.

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

E. Shoubridge, T. Wai, Suzanne S Chan, 2006, Molecular genetics and metabolism.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

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

H. Vallance, M. Coulter-Mackie, S. Stockler-Ipsiroglu, 2011, Molecular Genetics and Metabolism.

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

A. Levin, P. Waters, J. Andrade, 2008, Clinical journal of the American Society of Nephrology : CJASN.

Newborn Screening by Tandem Mass Spectrometry

B. Potter, C. Greenberg, D. Avard, 2007, Canadian journal of public health = Revue canadienne de sante publique.

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

P. Waters, K. Al-Thihli, R. Salvarinova, 2012, Gene.

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

H. Vallance, Karen Wong, K. Wong, 2000, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

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

G. Horvath, H. Vallance, S. Stockler-Ipsiroglu, 2013, Molecular genetics and metabolism.

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

C. Laberge, C. Greenberg, D. Avard, 2006, Genomics, society, and policy.

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

C. Ackerley, C. Ross, W. Wasserman, 2014, Orphanet Journal of Rare Diseases.

Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?

H. Vallance, A. Davidson, M. Steinraths, 2008, Canadian family physician Medecin de famille canadien.

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia

H. Vallance, G. Sinclair, M. Chilvers, 2020, International journal of neonatal screening.

Biochemical Approach to the Investigation of Pediatric Mitochondrial Disease

H. Vallance, 2004, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

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

C. Karnebeek, G. Horvath, H. Vallance, 2016 .

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

S. Grazioli, H. Vallance, S. Turvey, 2014, Clinical immunology.

Neuroleptic malignant syndrome and ECT.

H. Vallance, I. Mcconachie, 1993, British journal of hospital medicine.

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

H. Vallance, T. Fok, L. Law, 2003, Clinical biochemistry.

D‐2‐Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

C. Catsman-Berrevoets, O. Hjalmarson, W. Craigen, 1999, Annals of neurology.

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

Y. Lamers, Theresa H. Schroder, H. Vallance, 2016, Clinical biochemistry.

Carrier Testing for Autosomal- Recessive Disorders

H. Vallance, J. Ford, 2003, Critical reviews in clinical laboratory sciences.

Oral zinc therapy in the treatment of α-mannosidosis

H. Vallance, A. Savage, D. Applegarth, 1993 .

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

R. Carrozzo, W. Craigen, G. Enns, 2008, Human mutation.

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

J. Shoffner, P. Waters, H. Vallance, 2011, American journal of medical genetics. Part A.

IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria

E. Holme, E. Schaftingen, J. Smeitink, 2010, Science.

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

M. Demos, N. Blau, P. Waters, 2005, Molecular genetics and metabolism.

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Ping-Yee B Au, M. Srour, M. Inbar‐Feigenberg, 2023, Journal of Medical Genetics.

Atypical cerebral palsy: genomics analysis enables precision medicine

C. Ross, W. Wasserman, H. Goez, 2018, Genetics in Medicine.

Identification of 6 new mutations in the iduronate sulfatase gene

H. Vallance, M. Coulter-Mackie, D. Applegarth, 1999, Human mutation.

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

E. Shoubridge, W. Wasserman, H. Antonicka, 2015, European Journal of Human Genetics.

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

F. Alkuraya, M. Tarailo-Graovac, C. V. van Karnebeek, 2016, Molecular genetics and metabolism.

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

H. Vallance, M. Coulter-Mackie, M. Kaback, 2006, Molecular genetics and metabolism.

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

John J. Mitchell, J. Little, K. Wilson, 2019, Orphanet Journal of Rare Diseases.

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

C. V. van Karnebeek, H. Vallance, G. Sinclair, 2016, Molecular genetics and metabolism.

Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach

H. Vallance, G. Sinclair, Bojana Rakić, 2021, Journal of mass spectrometry and advances in the clinical lab.

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

H. Vallance, D. Applegarth, 1994, Clinical biochemistry.

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

Wyeth W. Wasserman, Scott A. Lear, Casper Shyr, 2017, Cold Spring Harbor molecular case studies.

Bone marrow transplant for a boy with alpha-mannosidosis illustrates a family’s decision-making in rare diseases

H. Vallance, S. Stockler, P. Steinbok, 2014 .

Maternal vitamin B12 status in early pregnancy and its association with birth outcomes in Canadian mother–newborn Dyads

Y. Lamers, H. Vallance, G. Sinclair, 2021, British Journal of Nutrition.

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

B. Andresen, P. Waters, G. Horvath, 2008, Canadian journal of public health = Revue canadienne de sante publique.

Newborn Screening for MCAD Deficiency

B. Andresen, P. Waters, G. Horvath, 2008 .

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

P. Waters, G. Horvath, H. Vallance, 2013, BMC Musculoskeletal Disorders.

The Brugada ECG Pattern in a Neonate

R. Brugada, H. Vallance, S. Sanatani, 2005, Journal of cardiovascular electrophysiology.

A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC-MS for clinical urine organic acids analysis.

H. Vallance, G. Sinclair, Bojana Rakić, 2022, Clinical biochemistry.

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

H. Vallance, D. Applegarth, J. Toone, 1994, Journal of Inherited Metabolic Disease.

6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

M. Demos, N. Blau, P. Waters, 2005, Annals of neurology.

Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly.

R. Schreiber, H. Vallance, L. Clarke, 2001, Journal of pediatric gastroenterology and nutrition.

Oral zinc therapy in the treatment of alpha-mannosidosis.

H. Vallance, A. Savage, D. Applegarth, 1993, American journal of medical genetics.

Diagnosis and management of patients with mitochondrial disease

P. Waters, H. Vallance, G. Sinclair, 2011 .