BC Children's Hospital Research Institute (BCCHR) Research Find a Researcher

Hilary Vallance

FRCPC, FCCMG, MD

Investigator, BC Children's Hospital
Director, Provincial Newborn Screening Program, BC Children's Hospital

The purpose of newborn blood spot screening is to identify babies with treatable conditions at birth. With early detection and treatment, serious health problems can be prevented. The BC Newborn Screening Program evaluates new candidate conditions for the test panel as new tests and treatments are developed.

Our research group identified a variant in a gene related to the harnessing of energy from fatty acids called the "CPT1 variant". The variant is common in BC First Nations as well as other Indigenous populations in Canada and Alaska. Individuals who have two copies of the CPT I variant have reduced, but not deficient, CPT I enzyme activity. The vast majority of babies with the CPT I variant are healthy and the high prevalence of the variant suggests a survival advantage on traditional diets. However, it is possible the CPT I variant may lead to low blood sugar in some children during long periods of fasting especially when fasting occurs during inter-current illness (fever, vomiting or diarrhea). In collaboration with FNHA and ChildhealthBC, knowledge translation strategies are under development for FN communities and health care providers.

Academic Affiliations

Clinical Professor, Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia
Research Theme: Childhood Diseases

Contact Information

Location

4500 Oak St, Vancouver, BC, Canada, V6H 3N1

(604) 875-2551

hvallance@cw.bc.ca

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

Jimd Reports

Yuskiv, N. and Saad, A. and Potter, B.K. and Stockler-Ipsiroglu, S. and Mitchell, J.J. and Hawken, S. and Tingley, K. and Pugliese, M. and Lamoureux, M. and Chow, A.J. and Kronick, J.B. and Wilson, K. and Feigenbaum, A. and Goobie, S. and Inbar-Feigenberg, M. and Little, J. and Mercimek-Andrews, S. and Pender, A. and Prasad, C. and Schulze, A. and Trakadis, Y. and Ho, G. and Vallance, H. and Austin, V. and Vandersteen, A. and Yu, A.C. and Rockman-Greenberg, C. and Mhanni, A.A. and Chakraborty, P.

DOI: 10.1002/jmd2.70042

A comparison of perinatal outcomes associated with gestational diabetes mellitus testing practices in British Columbia: A population-based retrospective cohort study

Canadian Journal of Public Health

Luke, S. and Bohn, M.K. and Boutin, A. and Giesbrecht, E. and Vallance, H. and Chan, W.-S. and Barakauskas, V.

DOI: 10.17269/s41997-024-00977-4

Macrocytosis in Mitochondrial DNA Deletion Syndromes

Acta Haematologica

Almarzooqi, F. and Vallance, H. and Mezei, M. and Lehman, A. and Horvath, G. and Rakic, B. and Zypchen, L. and Mattman, A.

DOI: 10.1159/000529311

Mining the Gap: Deriving Pregnancy Reference Intervals for Hematology Parameters Using Clinical Datasets

Clinical chemistry

Barakauskas, V.E. and Bohn, M.K. and Branch, E. and Boutin, A. and Albert, A. and Luke, S. and Dittrick, M. and Higgins, V. and Adeli, K. and Vallance, H. and Jung, B. and Dooley, K. and Dahlgren-Scott, L. and Chan, W.-S.

DOI: 10.1093/clinchem/hvad167

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

Journal of Medical Genetics

Carter, M.T. and Srour, M. and Au, P.-Y.B. and Buhas, D. and Dyack, S. and Eaton, A. and Inbar-Feigenberg, M. and Howley, H. and Kawamura, A. and Lewis, S.M.E. and McCready, E. and Nelson, T.N. and Vallance, H.

DOI: 10.1136/jmg-2022-108962

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

Clinical Biochemistry

Dubland, J.A. and Sinclair, G. and Vallance, H. and Raki?, B.

DOI: 10.1016/j.clinbiochem.2022.04.016

Meter bias correction is a remedy for inter-meter differences in hypoglycemia recognition rates

Paediatrics and Child Health (Canada)

Mattman, A. and Vallance, H. and Kaur, S. and Burton, T. and Fung, A.

DOI: 10.1093/pch/pxac037

Maternal vitamin B 12 status in early pregnancy and its association with birth outcomes in Canadian mother-newborn Dyads

British Journal of Nutrition

Tan, A. and Sinclair, G. and Mattman, A. and Vallance, H.D. and Lamers, Y.

DOI: 10.1017/S0007114521000581

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

Paediatrics and Child Health (Canada)

Vallance, H. and Sinclair, G. and Rakic, B. and Stockler-Ipsiroglu, S.

DOI: 10.1093/pch/pxaa112

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

Journal of Mass Spectrometry and Advances in the Clinical Lab

Dubland, J.A. and Raki?, B. and Vallance, H. and Sinclair, G.

DOI: 10.1016/j.jmsacl.2021.03.001

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

Orphanet Journal of Rare Diseases

Tingley, K. and Lamoureux, M. and Pugliese, M. and Geraghty, M.T. and Kronick, J.B. and Potter, B.K. and Coyle, D. and Wilson, K. and Kowalski, M. and Austin, V. and Brunel-Guitton, C. and Buhas, D. and Chan, A.K.J. and Dyack, S. and Feigenbaum, A. and Giezen, A. and Goobie, S. and Greenberg, C.R. and Ghai, S.J. and Inbar-Feigenberg, M. and Karp, N. and Kozenko, M. and Langley, E. and Lines, M. and Little, J. and MacKenzie, J. and Maranda, B. and Mercimek-Andrews, S. and Mohan, C. and Mhanni, A. and Mitchell, G. and Mitchell, J.J. and Nagy, L. and Napier, M. and Pender, A. and Potter, M. and Prasad, C. and Ratko, S. and Salvarinova, R. and Schulze, A. and Siriwardena, K. and Sondheimer, N. and Sparkes, R. and Stockler-Ipsiroglu, S. and Trakadis, Y. and Turner, L. and Van Karnebeek, C. and Vallance, H. and Vandersteen, A. and Walia, J. and Wilson, A. and Wilson, B.J. and Yu, A.C. and Yuskiv, N. and Chakraborty, P.

DOI: 10.1186/s13023-020-01358-z

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

Journal of Pediatrics

Fox, D.A. and Ronsley, R. and Khowaja, A.R. and Haim, A. and Vallance, H. and Sinclair, G. and Amed, S.

DOI: 10.1016/j.jpeds.2019.12.057

Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia

International Journal of Neonatal Screening

Sinclair, G. and McMahon, V. and Schellenberg, A. and Nelson, T.N. and Chilvers, M. and Vallance, H.

DOI: 10.3390/ijns6020046

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

Mitochondrion

Sharma, M.A. and Lee, J.Y.J. and Tam, A. and Sattha, B. and Mackenzie, I.R. and Vallance, H.D. and Sirrs, S. and Hannah-Shmouni, F. and Ct, H.C.F. and Mattman, A.

DOI: 10.1016/j.mito.2018.08.002

Atypical cerebral palsy: genomics analysis enables precision medicine

Genetics in Medicine

Matthews, A.M. and Blydt-Hansen, I. and Al-Jabri, B. and Andersen, J. and Tarailo-Graovac, M. and Price, M. and Selby, K. and Demos, M. and Connolly, M. and Drgemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and Stckler, S. and Salvarinova, R. and Vallance, H. and Sinclair, G. and Ross, C.J. and Wasserman, W.W. and McKinnon, M.L. and Horvath, G.A. and Goez, H. and van Karnebeek, C.D.

DOI: 10.1038/s41436-018-0376-y

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

Orphanet Journal of Rare Diseases

Karaceper, M.D. and Khangura, S.D. and Wilson, K. and Coyle, D. and Brownell, M. and Davies, C. and Dodds, L. and Feigenbaum, A. and Fell, D.B. and Grosse, S.D. and Guttmann, A. and Hawken, S. and Hayeems, R.Z. and Kronick, J.B. and Laberge, A.-M. and Little, J. and Mhanni, A. and Mitchell, J.J. and Nakhla, M. and Potter, M. and Prasad, C. and Rockman-Greenberg, C. and Sparkes, R. and Stockler, S. and Ueda, K. and Vallance, H. and Wilson, B.J. and Chakraborty, P. and Potter, B.K.

DOI: 10.1186/s13023-019-1001-0

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

Paediatrics and Child Health (Canada)

Sinclair, G. and Collins, S. and Arbour, L. and Vallance, H.

DOI: 10.1093/pch/pxy106

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

Clinical Chemistry and Laboratory Medicine

Schroder, T.H. and Tan, A. and Mattman, A. and Sinclair, G. and Barr, S.I. and Vallance, H.D. and Lamers, Y.

DOI: 10.1515/cclm-2018-1337

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

Journal of Nutrition

Mujica-Coopman, M.F. and Tan, A. and Schroder, T.H. and Sinclair, G. and Vallance, H.D. and Lamers, Y.

DOI: 10.1093/jn/nxz178

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

JCI insight

Wen, X.-Y. and Tarailo-Graovac, M. and Brand-Arzamendi, K. and Willems, A. and Rakic, B. and Huijben, K. and Da Silva, A. and Pan, X. and El-Rass, S. and Ng, R. and Selby, K. and Philip, A.M. and Yun, J. and Ye, X.C. and Ross, C.J. and Lehman, A.M. and Zijlstra, F. and Abu Bakar, N. and Drgemller, B. and Moreland, J. and Wasserman, W.W. and Vallance, H. and van Scherpenzeel, M. and Karbassi, F. and Hoskings, M. and Engelke, U. and de Brouwer, A. and Wevers, R.A. and Pshezhetsky, A.V. and van Karnebeek, C.D. and Lefeber, D.J.

DOI: 10.1172/jci.insight.122373

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

Molecular Genetics and Metabolism Reports

Vallance, H.D. and Koochin, A. and Branov, J. and Rosen-Heath, A. and Bosdet, T. and Wang, Z. and Hazen, S.L. and Horvath, G.

DOI: 10.1016/j.ymgmr.2018.04.005

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

British Journal of Nutrition

Schroder, T.H. and Sinclair, G. and Mattman, A. and Jung, B. and Barr, S.I. and Vallance, H.D. and Lamers, Y.

DOI: 10.1017/S0007114517002331

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

Molecular Case Studies

Stephanie C. Bourne and Katelin N. Townsend and Casper Shyr and Allison Matthews and Scott A. Lear and Raj Attariwala and Anna Lehman and Wyeth W. Wasserman and Clara van Karnebeek and Graham Sinclair and Hilary Vallance and William T. Gibson

DOI: 10.1101/mcs.a001156

10 / 2016

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

Journal of Inborn Errors of Metabolism and Screening

Graham B. Sinclair and Manuel Ester and Gabriella Horvath and Clara D. van Karnebeek and Sylvia Stockler-Ipsirogu and Hilary Vallance

DOI: 10.1177/2326409816666296

07 / 2016

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

Molecular Genetics and Metabolism

Sinclair, G.B. and van Karnebeek, C.D.M. and Ester, M. and Boyd, F. and Nelson, T. and Stockler-Ipsiroglu, S. and Vallance, H.

DOI: 10.1016/j.ymgme.2016.05.002

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

Brain

Zaharieva, I.T. and Thor, M.G. and Oates, E.C. and Van Karnebeek, C. and Hendson, G. and Blom, E. and Witting, N. and Rasmussen, M. and Gabbett, M.T. and Ravenscroft, G. and Sframeli, M. and Suetterlin, K. and Sarkozy, A. and D'Argenzio, L. and Hartley, L. and Matthews, E. and Pitt, M. and Vissing, J. and Ballegaard, M. and Krarup, C. and Sl?rdahl, A. and Halvorsen, H. and Ye, X.C. and Zhang, L.-H. and L?kken, N. and Werlauff, U. and Abdelsayed, M. and Davis, M.R. and Feng, L. and Phadke, R. and Sewry, C.A. and Morgan, J.E. and Laing, N.G. and Vallance, H. and Ruben, P. and Hanna, M.G. and Lewis, S. and Kamsteeg, E.-J. and Mnnikk, R. and Muntoni, F.

DOI: 10.1093/brain/awv352

Exome sequencing and the management of neurometabolic disorders

New England Journal of Medicine

Tarailo-Graovac, M. and Shyr, C. and Ross, C.J. and Horvath, G.A. and Salvarinova, R. and Ye, X.C. and Zhang, L.-H. and Bhavsar, A.P. and Lee, J.J.Y. and Drgemller, B.I. and Abdelsayed, M. and Alfadhel, M. and Armstrong, L. and Baumgartner, M.R. and Burda, P. and Connolly, M.B. and Cameron, J. and Demos, M. and Dewan, T. and Dionne, J. and Evans, A.M. and Friedman, J.M. and Garber, I. and Lewis, S. and Ling, J. and Mandal, R. and Mattman, A. and McKinnon, M. and Michoulas, A. and Metzger, D. and Ogunbayo, O.A. and Rakic, B. and Rozmus, J. and Ruben, P. and Sayson, B. and Santra, S. and Schultz, K.R. and Selby, K. and Shekel, P. and Sirrs, S. and Skrypnyk, C. and Superti-Furga, A. and Turvey, S.E. and Van Allen, M.I. and Wishart, D. and Wu, J. and Wu, J. and Zafeiriou, D. and Kluijtmans, L. and Wevers, R.A. and Eydoux, P. and Lehman, A.M. and Vallance, H. and Stockler-Ipsiroglu, S. and Sinclair, G. and Wasserman, W.W. and Van Karnebeek, C.D.

DOI: 10.1056/NEJMoa1515792

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

Molecular Genetics and Metabolism

Sass, J.O. and Gemperle-Britschgi, C. and Tarailo-Graovac, M. and Patel, N. and Walter, M. and Jordanova, A. and Alfadhel, M. and Bari?, I. and ?oker, M. and Damli-Huber, A. and Faqeih, E.A. and Garca Segarra, N. and Geraghty, M.T. and J?tun, B.M. and Kalkan U?ar, S. and Kriewitz, M. and Rauchenzauner, M. and Bili?, K. and Tournev, I. and Till, C. and Sayson, B. and Beumer, D. and Ye, C.X. and Zhang, L.-H. and Vallance, H. and Alkuraya, F.S. and van Karnebeek, C.D.M.

DOI: 10.1016/j.ymgme.2016.07.008

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

Clinical Biochemistry

Schroder, T.H. and Mattman, A. and Sinclair, G. and Vallance, H.D. and Lamers, Y.

DOI: 10.1016/j.clinbiochem.2016.03.007

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

European Journal of Human Genetics

Janer, A. and Van Karnebeek, C.D.M. and Sasarman, F. and Antonicka, H. and Al Ghamdi, M. and Shyr, C. and Dunbar, M. and Stockler-Ispiroglu, S. and Ross, C.J. and Vallance, H. and Dionne, J. and Wasserman, W.W. and Shoubridge, E.A.

DOI: 10.1038/ejhg.2014.293

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

BMC Pediatrics

Khangura, S.D. and Karaceper, M.D. and Trakadis, Y. and Mitchell, J.J. and Chakraborty, P. and Tingley, K. and Coyle, D. and Grosse, S.D. and Kronick, J.B. and Laberge, A.-M. and Little, J. and Prasad, C. and Sikora, L. and Siriwardena, K. and Sparkes, R. and Speechley, K.N. and Stockler, S. and Wilson, B.J. and Wilson, K. and Zayed, R. and Potter, B.K. and Austin, V. and Feigenbaum, A. and Nagy, L. and Brownwell, M. and Brunel, C. and Casey, R. and Chan, A. and Jain, S. and Chapman, M. and Dyack, S. and Gillis, J. and Dodds, L. and Fell, D. and Geraghty, M. and Langley, E. and Giezen, A. and Ueda, K. and Vallance, H. and Greenberg, C. and Guttmann, A. and Hayeems, R. and Miller, F. and Khan, A. and MacKenzie, J. and Maranda, B. and Mhanni, A. and Mitchell, G. and Nakhla, M. and Pender, A. and Potter, M. and Turner, L. and van Karnebeek, C.

DOI: 10.1186/s12887-015-0323-x

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

Clinical Biochemistry

Hilary Vallance and Graham Sinclair and Ramona Salvarinova and Michelle Demos and Tim Wood and Pamela Lavoie and Christiane Auray-Blais

DOI: 10.1016/j.clinbiochem.2014.07.051

10 / 2014

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

Clinical Biochemistry

Graham Sinclair and Clara van Karnebeek and Ramona Salvarinova and Gloria Ho and Keiko Ueda and Barbara Cheng and Alette Giezen and Sylvia Stockler and Hilary Vallance

DOI: 10.1016/j.clinbiochem.2014.07.075

10 / 2014

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

Clinical Biochemistry

Bojana Rakic and Graham Sinclair and Ramona Salvarinova and Hilary Vallance

DOI: 10.1016/j.clinbiochem.2014.07.063

10 / 2014

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

Prenatal Diagnosis

Metcalfe, A. and Langlois, S. and Macfarlane, J. and Vallance, H. and Joseph, K.S.

DOI: 10.1002/pd.4281

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

Journal of Inherited Metabolic Disease

Al-Thihli, K. and Sinclair, G. and Sirrs, S. and Mezei, M. and Nelson, J. and Vallance, H.

DOI: 10.1007/s10545-012-9578-7

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

Clinical Immunology

Grazioli, S. and Bennett, M. and Hildebrand, K.J. and Vallance, H. and Turvey, S.E. and Junker, A.K.

DOI: 10.1016/j.clim.2014.04.015

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

American Journal of Human Genetics

Van Karnebeek, C.D. and Sly, W.S. and Ross, C.J. and Salvarinova, R. and Yaplito-Lee, J. and Santra, S. and Shyr, C. and Horvath, G.A. and Eydoux, P. and Lehman, A.M. and Bernard, V. and Newlove, T. and Ukpeh, H. and Chakrapani, A. and Preece, M.A. and Ball, S. and Pitt, J. and Vallance, H.D. and Coulter-Mackie, M. and Nguyen, H. and Zhang, L.-H. and Bhavsar, A.P. and Sinclair, G. and Waheed, A. and Wasserman, W.W. and Stockler-Ipsiroglu, S.

DOI: 10.1016/j.ajhg.2014.01.006

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

Orphanet Journal of Rare Diseases

Stockler, S. and Corvera, S. and Lambright, D. and Fogarty, K. and Nosova, E. and Leonard, D. and Steinfeld, R. and Ackerley, C. and Shyr, C. and Au, N. and Selby, K. and Van Allen, M. and Vallance, H. and Wevers, R. and Watkins, D. and Rosenblatt, D. and Ross, C.J. and Conibear, E. and Wasserman, W. and Van Karnebeek, C.

DOI: 10.1186/s13023-014-0141-5

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

BMC Musculoskeletal Disorders

Gabriella Horvath and Sandra Sirrs and Sylvia Stockler and Ramona Salvarinova-Zivkovic and Hilary Vallance and Paula Waters

DOI: 10.1186/1471-2474-14-s2-p2

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

Molecular Genetics and Metabolism

Hartnett, C. and Salvarinova-Zivkovic, R. and Yap-Todos, E. and Cheng, B. and Giezen, A. and Horvath, G. and Lillquist, Y. and Vallance, H. and Stockler-Ipsiroglu, S.

DOI: 10.1016/j.ymgme.2013.01.007

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia

Canadian Journal of Neurological Sciences

Pfeffer, G. and Waters, P.J. and Maguire, J. and Vallance, H.D. and Wong, V.A. and Mezei, M.M.

DOI: 10.1017/S0317167100014062

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

Pediatrics

Sinclair, G.B. and Collins, S. and Popescu, O. and McFadden Md, D. and Arbour, L. and Vallance, H.D.

DOI: 10.1542/peds.2011-2924

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

Gene

Al-Thihli, K. and Ebrahim, H. and Hughes, D.A. and Patel, M. and Tipple, M. and Salvarinova, R. and Gardiner, J. and Vallance, H. and Waters, P.J.

DOI: 10.1016/j.gene.2012.01.056

Diagnosis and management of patients with mitochondrial disease

British Columbia Medical Journal

Mattman, A. and O'Riley, M. and Waters, P.J. and Sinclair, G. and Mezei, M.M. and Clark, L. and Hendson, G. and Vallance, H. and Sirrs, S.

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

Genetics in Medicine

McHugh, D.M.S. and Cameron, C.A. and Abdenur, J.E. and Abdulrahman, M. and Adair, O. and Al Nuaimi, S.A. and ?hlman, H. and Allen, J.J. and Antonozzi, I. and Archer, S. and Au, S. and Auray-Blais, C. and Baker, M. and Bamforth, F. and Beckmann, K. and Pino, G.B. and Berberich, S.L. and Binard, R. and Boemer, F. and Bonham, J. and Breen, N.N. and Bryant, S.C. and Caggana, M. and Caldwell, S.G. and Camilot, M. and Campbell, C. and Carducci, C. and Cariappa, R. and Carlisle, C. and Caruso, U. and Cassanello, M. and Castilla, A.M. and Ramos, D.E.C. and Chakraborty, P. and Chandrasekar, R. and Ramos, A.C. and Cheillan, D. and Chien, Y.-H. and Childs, T.A. and Chrastina, P. and Sica, Y.C. and Cocho De Juan, J.A. and Colandre, M.E. and Espinoza, V.C. and Corso, G. and Currier, R. and Cyr, D. and Czuczy, N. and D'Apolito, O. and Davis, T. and De Sain-Van Der Velden, M.G. and Pecellin, C.D. and Di Gangi, I.M. and Di Stefano, C.M. and Dotsikas, Y. and Downing, M. and Downs, S.M. and Dy, B. and Dymerski, M. and Rueda, I. and Elvers, B. and Eaton, R. and Eckerd, B.M. and El Mougy, F. and Eroh, S. and Espada, M. and Evans, C. and Fawbush, S. and Fijolek, K.F. and Fisher, L. and Franzson, L. and Frazier, D.M. and Garcia, L.R.C. and Bermejo, M.S.G.-V. and Gavrilov, D. and Gerace, R. and Giordano, G. and Irazabal, Y.G. and Greed, L.C. and Grier, R. and Grycki, E. and Gu, X. and Gulamali-Majid, F. and Hagar, A.F. and Han, L. and Hannon, W.H. and Haslip, C. and Hassan, F.A. and He, M. and Hietala, A. and Himstedt, L. and Hoffman, G.L. and Hoffman, W. and Hoggatt, P. and Hopkins, P.V. and Hougaard, D.M. and Hughes, K. and Hunt, P.R. and Hwu, W.-L. and Hynes, J. and Ibarra-Gonzlez, I. and Ingham, C.A. and Ivanova, M. and Jacox, W.B. and John, C. and Johnson, J.P. and Jnsson, J.J. and Karg, E. and Kasper, D. and Klopper, B. and Katakouzinos, D. and Khneisser, I. and Knoll, D. and Kobayashi, H. and Koneski, R. and Ko?ich, V. and Kouapei, R. and Kohlmueller, D. and Kremensky, I. and La Marca, G. and Lavochkin, M. and Lee, S.-Y. and Lehotay, D.C. and Lemes, A. and Lepage, J. and Lesko, B. and Lewis, B. and Lim, C. and Linard, S. and Lindner, M. and Lloyd-Puryear, M.A. and Lorey, F. and Loukas, Y.L. and Luedtke, J. and Maffitt, N. and Magee, J.F. and Manning, A. and Manos, S. and Marie, S. and Hadachi, S.M. and Marquardt, G. and Martin, S.J. and Matern, D. and Gibson, S.K.M. and Mayne, P. and McCallister, T.D. and McCann, M. and McClure, J. and McGill, J.J. and McKeever, C.D. and McNeilly, B. and Morrissey, M.A. and Moutsatsou, P. and Mulcahy, E.A. and Nikoloudis, D. and Norgaard-Pedersen, B. and Oglesbee, D. and Oltarzewski, M. and Ombrone, D. and Ojodu, J. and Papakonstantinou, V. and Reoyo, S.P. and Park, H.-D. and Pasquali, M. and Pasquini, E. and Patel, P. and Pass, K.A. and Peterson, C. and Pettersen, R.D. and Pitt, J.J. and Poh, S. and Pollak, A. and Porter, C. and Poston, P.A. and Price, R.W. and Queijo, C. and Quesada, J. and Randell, E. and Ranieri, E. and Raymond, K. and Reddic, J.E. and Reuben, A. and Ricciardi, C. and Rinaldo, P. and Rivera, J.D. and Roberts, A. and Rocha, H. and Roche, G. and Greenberg, C.R. and Mellado, J.M.E. and Juan-Fita, M.J. and Ruiz, C. and Ruoppolo, M. and Rutledge, S.L. and Ryu, E. and Saban, C. and Sahai, I. and Garca-Blanco, M.I.S. and Santiago-Borrero, P. and Schenone, A. and Schoos, R. and Schweitzer, B. and Scott, P. and Seashore, M.R. and Seeterlin, M.A. and Sesser, D.E. and Sevier, D.W. and Shone, S.M. and Sinclair, G. and Skrinska, V.A. and Stanley, E.L. and Strovel, E.T. and Jones, A.L.S. and Sunny, S. and Takats, Z. and Tanyalcin, T. and Teofoli, F. and Thompson, J.R. and Tomashitis, K. and Domingos, M.T. and Torres, J. and Torres, R. and Tortorelli, S. and Turi, S. and Turner, K. and Tzanakos, N. and Valiente, A.G. and Vallance, H. and Vela-Amieva, M. and Vilarinho, L. and Von Dbeln, U. and Vincent, M.-F. and Vorster, B.C. and Watson, M.S. and Webster, D. and Weiss, S. and Wilcken, B. and Wiley, V. and Williams, S.K. and Willis, S.A. and Woontner, M. and Wright, K. and Yahyaoui, R. and Yamaguchi, S. and Yssel, M. and Zakowicz, W.M.

DOI: 10.1097/GIM.0b013e31820d5e67

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

American Journal of Medical Genetics, Part A

Alfadhel, M. and Lillquist, Y.P. and Waters, P.J. and Sinclair, G. and Struys, E. and Mcfadden, D. and Hendson, G. and Hyams, L. and Shoffner, J. and Vallance, H.D.

DOI: 10.1002/ajmg.a.33881

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

Molecular Genetics and Metabolism

Brunel-Guitton, C. and Casey, B. and Coulter-Mackie, M. and Vallance, H. and Hewes, D. and Stockler-Ipsiroglu, S. and Mercimek-Mahmutoglu, S.

DOI: 10.1016/j.ymgme.2011.02.009

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Science

Kranendijk, M. and Struys, E.A. and Van Schaftingen, E. and Gibson, K.M. and Kanhai, W.A. and Van Der Knaap, M.S. and Amiel, J. and Buist, N.R. and Das, A.M. and De Klerk, J.B. and Feigenbaum, A.S. and Grange, D.K. and Hofstede, F.C. and Holme, E. and Kirk, E.P. and Korman, S.H. and Morava, E. and Morris, A. and Smeitink, J. and Sukhai, R.N. and Vallance, H. and Jakobs, C. and Salomons, G.S.

DOI: 10.1126/science.1192632

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

Molecular Genetics and Metabolism

Collins, S.A. and Sinclair, G. and McIntosh, S. and Bamforth, F. and Thompson, R. and Sobol, I. and Osborne, G. and Corriveau, A. and Santos, M. and Hanley, B. and Greenberg, C.R. and Vallance, H. and Arbour, L.

DOI: 10.1016/j.ymgme.2010.07.013

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

Molecular Genetics and Metabolism

Greenberg, C.R. and Dilling, L.A. and Thompson, G.R. and Seargeant, L.E. and Haworth, J.C. and Phillips, S. and Chan, A. and Vallance, H.D. and Waters, P.J. and Sinclair, G. and Lillquist, Y. and Wanders, R.J.A. and Olpin, S.E.

DOI: 10.1016/j.ymgme.2008.12.018

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

Canadian Family Physician

Steinraths, M. and Vallance, H.D. and Davidson, A.G.F.

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

Canadian Journal of Public Health

Horvath, G.A. and Davidson, A.G.F. and Stockler-Ipsiroglu, S.G. and Lillquist, Y.P. and Waters, P.J. and Olpin, S. and Andresen, B.S. and Palaty, J. and Nelson, J. and Vallance, H.

DOI: 10.1007/bf03403754

Screening for fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test

Clinical Journal of the American Society of Nephrology

Andrade, J. and Waters, P.J. and Singh, R.S. and Levin, A. and Toh, B.-C. and Vallance, H.D. and Sirrs, S.

DOI: 10.2215/CJN.02490607

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

Canadian journal of public health = Revue canadienne de sante publique

Horvath GA and Davidson AG and Stockler-Ipsiroglu SG and Lillquist YP and Waters PJ and Olpin S and Andresen BS and Palaty J and Nelson J and Vallance H

PubMed: 18767270

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

Human mutation

Dimmock, D.P. and Zhang, Q. and Dionisi-Vici, C. and Carrozzo, R. and Shieh, J. and Tang, L.Y. and Truong, C. and Schmitt, E. and Sifry-Platt, M. and Lucioli, S. and Santorelli, F.M. and Ficicioglu, C.H. and Rodriguez, M. and Wierenga, K. and Enns, G.M. and Longo, N. and Lipson, M.H. and Vallance, H. and Craigen, W.J. and Scaglia, F. and Wong, L.J.

DOI: 10.1002/humu.9519

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

Clinical Biochemistry

Coulter-Mackie, M.B. and Lian, Q. and Applegarth, D.A. and Toone, J. and Waters, P.J. and Vallance, H.

DOI: 10.1016/j.clinbiochem.2008.01.018

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

Journal of Inherited Metabolic Disease

Vallance, H. and Sirrs, S. and Bamforth, F. and Stockler-Ipsiroglu, S.

DOI: 10.1007/s10545-008-0846-5

Newborn screening by Tandem Mass Spectrometry: Ethical and social issues

Canadian Journal of Public Health

Avard, D. and Vallance, H. and Greenberg, C. and Potter, B.

DOI: 10.1007/bf03405404

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

Canadian journal of public health = Revue canadienne de sante publique

Avard D and Vallance H and Greenberg C and Potter B

PubMed: 17896737

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

Genomics, society, and policy

Avard D and Vallance H and Greenberg C and Laberge C and Kharaboyan L and Plant M

12 / 2006

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

Molecular Genetics and Metabolism

Leary, S.C. and Mattman, A. and Wai, T. and Koehn, D.C. and Clarke, L.A. and Chan, S. and Lomax, B. and Eydoux, P. and Vallance, H.D. and Shoubridge, E.A.

DOI: 10.1016/j.ymgme.2006.04.016

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

Molecular Genetics and Metabolism

Vallance, H. and Morris, T.J. and Coulter-Mackie, M. and Lim-Steele, J. and Kaback, M.

DOI: 10.1016/j.ymgme.2005.10.012

The Brugada ECG pattern in a neonate

Journal of Cardiovascular Electrophysiology

Sanatani, S. and Mahkseed, N. and Vallance, H. and Brugada, R.

DOI: 10.1046/j.1540-8167.2005.40607.x

Laboratory Testing of Infants and Children

Pediatrics

Lockitch, G. and Mock, T. and Thomas, E. and Vallance, H. and Wadsworth, L.

DOI: 10.1016/B978-0-323-01199-0.50276-0

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

Molecular Genetics and Metabolism

Waters, P.J. and Khashu, M. and Lillquist, Y. and Senger, C. and Mattman, A. and Demos, M. and Setchell, K. and Rupar, A. and Scott, P. and Blau, N. and Vallance, H.D.

DOI: 10.1016/j.ymgme.2005.07.032

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

Annals of Neurology

Demos, M.K. and Waters, P.J. and Vallance, H.D. and Lillquist, Y. and Makhseed, N. and Hyland, K. and Blau, N. and Connolly, M.B.

DOI: 10.1002/ana.20532

Expansion of the 22q13 deletion phenotype in four patients with autism spectrum disorder

Journal of Investigative Medicine

E. Lopez-Rangel and H. Vallance and J. Palaty and E. Mickelson and M. Hrynchak and E. Separovic and P. M. MacLeod and L. Arbour and L. Clarke and M. E.S. Lewis

DOI: 10.1097/00042871-200401001-00125

01 / 2004

Biochemical approach to the investigation of pediatric mitochondrial disease

Pediatric and Developmental Pathology

Vallance, H.

DOI: 10.1007/s10024-004-5053-2

Pseudo-lysosomal storage disease caused by EMLA cream

Journal of Inherited Metabolic Disease

Vallance, H. and Chaba, T. and Clarke, L. and Taylor, G.

DOI: 10.1023/B:BOLI.0000037352.98317.5a

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

Journal of Inherited Metabolic Disease

Makhseed, N. and Vallance, H.D. and Potter, M. and Waters, P.J. and Wong, L.T.K. and Lillquist, Y. and Pasquali, M. and Amat di San Filippo, C. and Longo, N.

DOI: 10.1023/B:BOLI.0000045837.23328.f4

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

Pediatric Cardiology

Vallance, H.D. and Jeven, G. and Wallace, D.C. and Brown, M.D.

DOI: 10.1007/s00246-003-0446-y

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Nature Genetics

Rutsch, F. and Ruf, N. and Vaingankar, S. and Toliat, M.R. and Suk, A. and Hhne, W. and Schauer, G. and Lehmann, M. and Roscioli, T. and Schnabel, D. and Epplen, J.T. and Knisely, A. and Superti-Furga, A. and McGill, J. and Filippone, M. and Sinaiko, A.R. and Vallance, H. and Hinrichs, B. and Smith, W. and Ferre, M. and Terkeltaub, R. and Nrnberg, P.

DOI: 10.1038/ng1221

Carrier testing for autosomal-recessive disorders

Critical Reviews in Clinical Laboratory Sciences

Vallance, H. and Ford, J.

DOI: 10.1080/10408360390247832

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

Clinical Biochemistry

Tang, N.L.S. and Hui, J. and Yong, C.K.K. and Wong, L.T.K. and Applegarth, D.A. and Vallance, H.D. and Law, L.K. and Fung, S.L.M. and Mak, T.W.L. and Sung, Y.M. and Cheung, K.L. and Fok, T.F.

DOI: 10.1016/S0009-9120(02)00432-0

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

Journal of Pediatric Gastroenterology and Nutrition

Gillett, P.M. and Schreiber, R.A. and Jevon, G.P. and Israel, D.M. and Warshawski, T. and Vallance, H. and Clarke, L.A.

DOI: 10.1097/00005176-200108000-00025

Novel point mutation (W184R) in neonatal type 2 Gaucher disease

Pediatric and Developmental Pathology

Choy, F.Y.M. and Wong, K. and Vallance, H.D. and Baldwin, V.

DOI: 10.1007/s100249910018

Novel point mutation (W184R) in neonatal type 2 Gaucher disease.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Choy FY and Wong K and Vallance HD and Baldwin V

DOI: 10.1007/s100240050023 PubMed: 10679038

The Liver Biopsy and the Jaundiced Infant

Pathology Case Reviews

Avrum J. Ostry and Hilary D. Vallance and James E. Dimmick and Garcth P. levon

DOI: 10.1097/00132583-199905000-00005

05 / 1999

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

Journal of Inherited Metabolic Disease

Bamforth, F.J. and Dorian, V. and Vallance, H. and Wishart, D.S.

DOI: 10.1023/A:1005531432766

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

Human mutation

Vallance, H.D. and Bernard, L. and Rashed, M. and Chiu, D. and Le, G. and Toone, J. and Applegarth, D.A. and Coulter-Mackie, M.

DOI: 10.1002/(SICI)1098-1004(1999)13:4u003C338::AID-HUMU15u003E3.0.CO;2-3

D-2-hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

Annals of Neurology

Van Der Knaap, M.S. and Jakobs, C. and Hoffmann, G.F. and Nyhan, W.L. and Renier, W.O. and Smeitink, J.A.M. and Catsman-Berrevoets, C.E. and Hjalmarson, O. and Vallance, H. and Sugita, K. and Bowe, C.M. and Herrin, J.T. and Craigen, W.J. and Buist, N.R.M. and Brookfield, D.S.K. and Chalmers, R.A.

DOI: 10.1002/1531-8249(199901)45:1u003C111::AID-ART17u003E3.0.CO;2-N

Early amniocentesis for biochemical genetic prenatal diagnosis [2]

Lancet

Toone, J.R. and Applegarth, D.A. and Vallance, H.D. and Wilson, R.D.

DOI: 10.1016/S0140-6736(05)79157-1

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

Clinical Biochemistry

Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J. and Vallance, H.

DOI: 10.1016/S0009-9120(96)00124-5

Are patients with homocystinuria being missed?

European Journal of Pediatrics

Applegarth, D.A. and Vallance, H.D. and Seccombe, D.

DOI: 10.1007/BF02074844

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

Clinical Biochemistry

Vallance, H. and Derek, A.

DOI: 10.1016/0009-9120(94)90053-1

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

Journal of Inherited Metabolic Disease

Vallance, H.D. and Toone, J.R. and Applegarth, D.A.

DOI: 10.1007/BF00711604

Oral zinc therapy in the treatment of a-mannosidosis

American Journal of Medical Genetics

Wong, L.T.K. and Vallance, H. and Savage, A. and Davidson, A.G.F. and Applegarth, D.

DOI: 10.1002/ajmg.1320460413

Rapid, semi-quantitative assay of C-reactive protein evaluated

Clinical Chemistry

Vallance, H. and Lockitch, G.

DOI: 10.1093/clinchem/37.11.1981

Current Project

Treatable Intellectual Disability Endeavour (TIDE-BC)
Development of an LC/MS/MS method for amino acid profiling.

Current Project

CPTI variant communications
Development of public health messaging and information for health care providers.

Current Project

Natural history of the CPT I variant in BC First Nations
An anonymized study to evaluate health parameters available in public health databases (PopBC) to expand our knowledge of the natural history the CPT I variant.

Grants

Defining the clinical risks associated with CPT1a p.P479L homozygosity in children from BC First Nations ~ $22,000. Coinvestigators

CIHR / JDRF Type 1 Diabetes Screening Research Consortium ID: 510275 collaborator

Honours & Awards

2024 CCMG F. Clarke Fraser Award for Excellence in Teaching and Mentorship

Dr. Parminder Singh Award, British Columbia Pediatric Society — 2011

Our Research

At BC Children’s, we are making discoveries that save lives and transform health care for children in our province and around the world. Our research portfolio includes basic, clinical, population, and public health research.

EXPLORE OUR RESEARCH

Hilary Vallance

FRCPC, FCCMG, MD

Investigator, BC Children's Hospital Director, Provincial Newborn Screening Program, BC Children's Hospital

Academic Affiliations

Contact Information

Location

Publications

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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

A comparison of perinatal outcomes associated with gestational diabetes mellitus testing practices in British Columbia: A population-based retrospective cohort study

Macrocytosis in Mitochondrial DNA Deletion Syndromes

Mining the Gap: Deriving Pregnancy Reference Intervals for Hematology Parameters Using Clinical Datasets

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

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

Meter bias correction is a remedy for inter-meter differences in hypoglycemia recognition rates

Maternal vitamin B 12 status in early pregnancy and its association with birth outcomes in Canadian mother-newborn Dyads

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

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

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

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

Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia

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

Atypical cerebral palsy: genomics analysis enables precision medicine

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

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

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

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

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

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

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

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

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

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

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

Exome sequencing and the management of neurometabolic disorders

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

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

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

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

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

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

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

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

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

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

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

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

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

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

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia

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

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

Diagnosis and management of patients with mitochondrial disease

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

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

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

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

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

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

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

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

Screening for fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test

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

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

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

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

Newborn screening by Tandem Mass Spectrometry: Ethical and social issues

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

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

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

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

The Brugada ECG pattern in a neonate

Laboratory Testing of Infants and Children

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

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

Expansion of the 22q13 deletion phenotype in four patients with autism spectrum disorder

Biochemical approach to the investigation of pediatric mitochondrial disease

Pseudo-lysosomal storage disease caused by EMLA cream

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

Investigator, BC Children's Hospital
Director, Provincial Newborn Screening Program, BC Children's Hospital