Carnitine Palmitoyltransferase I (CPT Ia) is an enzyme that regulates entry of long chain fatty acids into the mitochondria for oxidation. Classic CPT I deficiency is a very rare disorder that presents with hypoketotic hypoglyemia with a risk of sudden unexpected death.

Our research group identified a variant in the CPT Ia gene that is common in BC First Nations. Individuals who are homozygous for the CPT I P479L variant have reduced, but not deficient, CPT I enzyme activity. This CPT I variant, is most prevalent along coastal regions of BC and on Vancouver Island. Approximately 20% of First Nations are homozygous for the CPTI variant along the BC coast compared to 4% in the Interior regions of the province. Every year in BC, ~ 200 babies are born with the CPT I P479L variant. The vast majority of babies with the CPT I variant are healthy and do not develop health problems. 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). By investigation of sudden unexpected death (SUD) cases in BC, our research group found an association between the CPT I variant and SUD.


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 TH and Tan A and Mattman A and Sinclair G and Barr SI and Vallance HD and Lamers Y
DOI: 10.1515/cclm-2018-1337
PubMed: 31085739

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 MD and Khangura SD and Wilson K and Coyle D and Brownell M and Davies C and Dodds L and Feigenbaum A and Fell DB and Grosse SD and Guttmann A and Hawken S and Hayeems RZ and Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
DOI: 10.1186/s13023-019-1001-0
PubMed: 30902101

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
JCI insight
Wen XY 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 AM and Yun J and Ye XC and Lefeber DJ
DOI: 10.1172/jci.insight.122373
PubMed: 30568043

Atypical cerebral palsy: genomics analysis enables precision medicine.
Genetics in medicine : official journal of the American College of Medical Genetics
Matthews AM 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 Drögemoller B and Shyr C and Mwenifumbo J and  United for Metabolic Diseases and the CAUSES Study
DOI: 10.1038/s41436-018-0376-y
PubMed: 30542205

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation
Paediatrics & Child Health
Graham Sinclair and Sorcha Collins and Laura Arbour and Hilary Vallance
DOI: 10.1093/pch/pxy106

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations
Mehul A. Sharma and Ja Young J. Lee and Andrea Tam and Beheroze Sattha and Ian R. Mackenzie and Hilary D. Vallance and Sandra Sirrs and Fady Hannah-Shmouni and Hélène C.F. Côté and Andre Mattman
DOI: 10.1016/j.mito.2018.08.002

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine.
Molecular genetics and metabolism reports
DOI: 10.1016/j.ymgmr.2018.04.005
PubMed: 30023305

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
Theresa H. Schroder and Graham Sinclair and Andre Mattman and Benjamin Jung and Susan I. Barr and Hilary D. Vallance and Yvonne Lamers
DOI: 10.1017/s0007114517002331

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novoOPA3mutation
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

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency
Clinical Biochemistry
Theresa H. Schroder and Andre Mattman and Graham Sinclair and Hilary D. Vallance and Yvonne Lamers
DOI: 10.1016/j.clinbiochem.2016.03.007

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Molecular genetics and metabolism
Sass JO and Gemperle-Britschgi C and Tarailo-Graovac M and Patel N and Walter M and Jordanova A and Alfadhel M and Baric I and Çoker M and Damli-Huber A and Faqeih EA and van Karnebeek CD
DOI: 10.1016/j.ymgme.2016.07.008
PubMed: 27477828

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening
Molecular Genetics and Metabolism
Graham B. Sinclair and Clara D.M. van Karnebeek and Manuel Ester and Frances Boyd and Tanya Nelson and Sylvia Stockler-Ipsiroglu and Hilary Vallance
DOI: 10.1016/j.ymgme.2016.05.002

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

Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drögemöller BI and Abdelsayed M and Alfadhel M and van Karnebeek CD
DOI: 10.1056/nejmoa1515792
PubMed: 27276562

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain : a journal of neurology
Zaharieva IT and Thor MG and Oates EC and van Karnebeek C and Hendson G and Blom E and Witting N and Rasmussen M and Gabbett MT and Ravenscroft G and Sframeli M and Suetterlin K and Muntoni F
DOI: 10.1093/brain/awv352
PubMed: 26700687

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness and multiorgan involvement
European Journal of Human Genetics
Alexandre Janer and Clara DM van Karnebeek and Florin Sasarman and Hana Antonicka and Malak Al Ghamdi and Casper Shyr and Mary Dunbar and Sylvia Stockler-Ispiroglu and Colin J Ross and Hilary Vallance and Janis Dionne and Wyeth W Wasserman and Eric A Shoubridge
DOI: 10.1038/ejhg.2014.293

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

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

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

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
Orphanet Journal of Rare Diseases
Sylvia Stockler and Silvia Corvera and David Lambright and Kevin Fogarty and Ekaterina Nosova and Deborah Leonard and Robert Steinfeld and Cameron Ackerley and Casper Shyr and Nicolas Au and Kathrin Selby and Margot van Allen and Hilary Vallance and Ron Wevers and David Watkins and David Rosenblatt and Colin J Ross and Elizabeth Conibear and Wyeth Wasserman and Clara van Karnebeek
DOI: 10.1186/s13023-014-0141-5

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency
Clinical Immunology
Serge Grazioli and Mary Bennett and Kyla J. Hildebrand and Hilary Vallance and Stuart E. Turvey and Anne K. Junker
DOI: 10.1016/j.clim.2014.04.015

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
The American Journal of Human Genetics
Clara D. van Karnebeek and William S. Sly and Colin J. Ross and Ramona Salvarinova and Joy Yaplito-Lee and Saikat Santra and Casper Shyr and Gabriella A. Horvath and Patrice Eydoux and Anna M. Lehman and Virginie Bernard and Theresa Newlove and Henry Ukpeh and Anupam Chakrapani and Mary Anne Preece and Sarah Ball and James Pitt and Hilary D. Vallance and Marion Coulter-Mackie and Hien Nguyen and Lin-Hua Zhang and Amit P. Bhavsar and Graham Sinclair and Abdul Waheed and Wyeth W. Wasserman and Sylvia Stockler-Ipsiroglu
DOI: 10.1016/j.ajhg.2014.01.006

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 KS
DOI: 10.1002/pd.4281
PubMed: 24226970

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
Molecular Genetics and Metabolism
Carol Hartnett and Ramona Salvarinova-Zivkovic and Eva Yap-Todos and Barbara Cheng and Alette Giezen and Gabriella Horvath and Yolanda Lillquist and Hilary Vallance and Sylvia Stockler-Ipsiroglu
DOI: 10.1016/j.ymgme.2013.01.007

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid ß-oxidation disorders in adult patients with rhabdomyolysis
Journal of Inherited Metabolic Disease
Khalid Al-Thihli and Graham Sinclair and Sandra Sirrs and Michelle Mezei and Judie Nelson and Hilary Vallance
DOI: 10.1007/s10545-012-9578-7

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

Carnitine Palmitoyltransferase I and Sudden Unexpected Infant Death in British Columbia First Nations
G. B. Sinclair and S. Collins and O. Popescu and D. McFadden and L. Arbour and H. D. Vallance
DOI: 10.1542/peds.2011-2924

Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Pfeffer G and Waters PJ and Maguire J and Vallance HD and Wong VA and Mezei MM
PubMed: 22728862

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia
The Canadian Journal of Neurological Sciences
Gerald Pfeffer and Paula J. Waters and John Maguire and Hilary D. Vallance and V. A. Wong and Michelle M. Mezei
DOI: 10.1017/s0317167100014062

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
Al-Thihli K and Ebrahim H and Hughes DA and Patel M and Tipple M and Salvarinova R and Gardiner J and Vallance H and Waters PJ
DOI: 10.1016/j.gene.2012.01.056
PubMed: 22336178

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
Molecular Genetics and Metabolism
Catherine Brunel-Guitton and Brett Casey and Marion Coulter-Mackie and Hilary Vallance and Deborah Hewes and Sylvia Stockler-Ipsiroglu and Saadet Mercimek-Mahmutoglu
DOI: 10.1016/j.ymgme.2011.02.009

Diagnosis and Management of patients with mitochondrial disease
BC Medical Journal

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review
American Journal of Medical Genetics Part A
Majid Alfadhel and Yolanda P. Lillquist and Paula J. Waters and Graham Sinclair and Eduard Struys and Deborah McFadden and Glenda Hendson and Lauren Hyams and John Shoffner and Hilary D. Vallance
DOI: 10.1002/ajmg.a.33881

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Genetics in medicine : official journal of the American College of Medical Genetics
McHugh D and Cameron CA and Abdenur JE and Abdulrahman M and Adair O and Al Nuaimi SA and Åhlman H and Allen JJ and Antonozzi I and Archer S and Au S and Auray-Blais C and Baker M and Zakowicz WM
DOI: 10.1097/gim.0b013e31820d5e67
PubMed: 21325949

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut
Molecular Genetics and Metabolism
Sorcha A. Collins and Graham Sinclair and Sarah McIntosh and Fiona Bamforth and Robert Thompson and Isaac Sobol and Geraldine Osborne and Andre Corriveau and Maria Santos and Brendan Hanley and Cheryl R. Greenberg and Hilary Vallance and Laura Arbour
DOI: 10.1016/j.ymgme.2010.07.013

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Science (New York, N.Y.)
Kranendijk M and Struys EA and van Schaftingen E and Gibson KM and Kanhai WA and van der Knaap MS and Amiel J and Buist NR and Das AM and de Klerk JB and Feigenbaum AS and Grange DK and Salomons GS
DOI: 10.1126/science.1192632
PubMed: 20847235

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
Molecular Genetics and Metabolism
Cheryl R. Greenberg and Louise A. Dilling and G. Robert Thompson and Lorne E. Seargeant and James C. Haworth and Susan Phillips and Alicia Chan and Hilary D. Vallance and Paula J. Waters and Graham Sinclair and Yolanda Lillquist and Ronald J.A. Wanders and Simon E. Olpin
DOI: 10.1016/j.ymgme.2008.12.018

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)
Journal of Inherited Metabolic Disease
H. Vallance and S. Sirrs and F. Bamforth and S. Stockler-Ipsiroglu
DOI: 10.1007/s10545-008-0846-5

Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?
Canadian family physician Medecin de famille canadien
Steinraths M and Vallance HD and Davidson AG
PubMed: 18556497

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results
Clinical Biochemistry
Marion B. Coulter-Mackie and Qun Lian and Derek A. Applegarth and Jennifer Toone and Paula J. Waters and Hilary Vallance
DOI: 10.1016/j.clinbiochem.2008.01.018

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation
Dimmock DP and Zhang Q and Dionisi-Vici C and Carrozzo R and Shieh J and Tang LY and Truong C and Schmitt E and Sifry-Platt M and Lucioli S and Santorelli FM and Ficicioglu CH and Wong LJ
DOI: 10.1002/humu.9519
PubMed: 18205204

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Clinical journal of the American Society of Nephrology : CJASN
Andrade J and Waters PJ and Singh RS and Levin A and Toh BC and Vallance HD and Sirrs S
DOI: 10.2215/cjn.02490607
PubMed: 18003767

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

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

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 TJ and Coulter-Mackie M and Lim-Steele J and Kaback M
DOI: 10.1016/j.ymgme.2005.10.012
PubMed: 16352452

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.
Molecular genetics and metabolism
Leary SC and Mattman A and Wai T and Koehn DC and Clarke LA and Chan S and Lomax B and Eydoux P and Vallance HD and Shoubridge EA
DOI: 10.1016/j.ymgme.2006.04.016
PubMed: 16765077

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
Molecular genetics and metabolism
Waters PJ 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 HD
DOI: 10.1016/j.ymgme.2005.07.032
PubMed: 16182582

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
Annals of Neurology
Michelle K. Demos and Paula J. Waters and Hilary D. Vallance and Yolanda Lillquist and Nawal Makhseed and Keith Hyland and Nenad Blau and Mary B. Connolly
DOI: 10.1002/ana.20532

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
PubMed: 15817096

Biochemical Approach to the Investigation of Pediatric Mitochondrial Disease
Pediatric and Developmental Pathology
Hilary Vallance
DOI: 10.1007/s10024-004-5053-2

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

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 HD and Potter M and Waters PJ and Wong LT and Lillquist Y and Pasquali M and Amat di San Filippo C and Longo N
DOI: 10.1023/b:boli.0000045837.23328.f4
PubMed: 15617188

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.
Pediatric cardiology
Vallance HD and Jeven G and Wallace DC and Brown MD
DOI: 10.1007/s00246-003-0446-y
PubMed: 15164143

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency
Clinical Biochemistry
Nelson L.S. Tang and Joannie Hui and Collin K.K. Yong and Lawrence T.K. Wong and Derek A. Applegarth and Hilary D. Vallance and L.K. Law and Simon L.M. Fung and Tony W.L. Mak and Y.M. Sung and K.L. Cheung and T.F. Fok
DOI: 10.1016/s0009-9120(02)00432-0

Carrier Testing for Autosomal- Recessive Disorders
Critical Reviews in Clinical Laboratory Sciences
Hilary Vallance and Jason Ford
DOI: 10.1080/10408360390247832

Mucopolysaccharidosis Type VII (Sly Syndrome) Presenting as Neonatal Cholestasis With Hepatosplenomegaly
Journal of Pediatric Gastroenterology and Nutrition
Peter M. Gillett and Richard A. Schreiber and Gareth P. Jevon and David M. Israel and Tom Warshawski and Hilary Vallance and Lorne A. Clarke
DOI: 10.1097/00005176-200108000-00025

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

Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urine.
Journal of Inherited Metabolic Disease
Bamforth FJ and Dorian V and Vallance H and Wishart DS
DOI: 10.1023/a:1005531432766
PubMed: 10384391

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?
Annals of neurology
van der Knaap MS and Jakobs C and Hoffmann GF and Nyhan WL and Renier WO and Smeitink JA and Catsman-Berrevoets CE and Hjalmarson O and Vallance H and Sugita K and Bowe CM and Chalmers RA
DOI: 10.1002/1531-8249(199901)45:13.0.co;2-n
PubMed: 9894884

Identification of 6 new mutations in the iduronate sulfatase gene
Human Mutation
Hilary D. Vallance and Lynn Bernard and Michael Rashed and Doris Chiu and Grace Le and Jenny Toone and Derek A. Applegarth and Marion Coulter-Mackie
DOI: 10.1002/(sici)1098-1004(1999)13:43.0.co;2-3

Early amniocentesis for biochemical genetic prenatal diagnosis
The Lancet
JR Toone and DA Applegarth and HD Vallance and RD Wilson
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
Marion B. Coulter-Mackie and Derek A. Applegarth and Jennifer Toone and Hilary Vallance
DOI: 10.1016/s0009-9120(96)00124-5

Are patients with homocystinuria being missed?
European Journal of Pediatrics
Derek A. Applegarth and Hilary D. Vallance and David Seccombe
DOI: 10.1007/bf02074844

An improved method for quantification of very long chain fatty acids in plasma
Clinical Biochemistry
Hilary Vallance and Applegarth Derek
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 HD and Toone JR and Applegarth DA
DOI: 10.1007/bf00711604
PubMed: 7837773

Oral zinc therapy in the treatment of a-mannosidosis
American Journal of Medical Genetics
Lawrence T. K. Wong and Hilary Vallance and Angela Savage and A. G. F. Davidson and Derek Applegarth
DOI: 10.1002/ajmg.1320460413


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.


Collaborative Area of Innovation Title: TIDE BC Treatable Intellectual Disability Endeavour in B.C. (TIDE-BC) ~ $2.25M. PI: Stockler S Co-Investigators: Dr. Jean-Paul Collet, Dr. Clara van Karnebeek, Dr. Carlo Marra, Dr. Hilary Vallance and Dr. Wyeth Wasserman. (2011-2014).

Children's and Women's Health Center: Telethon fund Title: Defining the clinical risks associated with CPT1a p.P479L homozygosity in children from BC First Nations ~ $22,000. Coinvestigators: Arbour L. (2011-2013)

CIHR Emerging Team Grant Title: Emerging team in rare diseases: Achieving the 'triple aim' for inborn errors of metabolism ~ $1,490,492. (2012-2017).

Honours & Awards

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