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Hilary Vallance

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Carol Hartnett; Gabriella Horvath; Yolanda Lillquist; Ramona Salvarinova-Zivkovic; Barbara Cheng; Alette Giezen; Hilary D Vallance; Eva Yap-Todos; Sylvia Stockler-Ipsiroglu
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
Graham B Sinclair; Laura Arbour; Sorcha Collins; Deborah McFadden; Oana Popescu; Hilary D Vallance
Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.
Gerald Pfeffer; Hilary D Vallance; Paula J Waters; V A Wong; John Maguire; MM Mezei
Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.

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All Publications

2013: Carol Hartnett; Gabriella Horvath; Yolanda Lillquist; Ramona Salvarinova-Zivkovic; Barbara Cheng; Alette Giezen; Hilary D Vallance; Eva Yap-Todos; Sylvia Stockler-Ipsiroglu
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
Molecular genetics and metabolism 2013;108(4):255-8.
2012: Graham B Sinclair; Laura Arbour; Sorcha Collins; Deborah McFadden; Oana Popescu; Hilary D Vallance
Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations.
Pediatrics 2012;130(5):e1162-9.
2012: Gerald Pfeffer; Hilary D Vallance; Paula J Waters; V A Wong; John Maguire; MM Mezei
Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2012;39(4):520-4.
2012: Khalid Al-Thihli; Hatim Ebrahim; Jane Gardiner; Derralynn A Hughes; Millan Patel; Ramona Salvarinova; Marion Tipple; Hilary D Vallance; Paula J Waters
A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
Gene 2012;497(2):320-2.
2011: Catherine Brunel-Guitton; Brett Casey; Marion B Coulter-Mackie; Hilary D Vallance; Deborah Hewes; Sylvia Stockler-Ipsiroglu; Saadet Mercimek-Mahmutoglu
Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.
Molecular genetics and metabolism 2011;103(2):193-6.
2010: Sorcha A Collins; Graham Sinclair; Sarah McIntosh; Fiona Bamforth; Robert Thompson; Isaac Sobol; Geraldine Osborne; Andre Corriveau; Maria Santos; Brendan Hanley; Cheryl R Greenberg; Hilary D Vallance; Laura Arbour
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.
Molecular genetics and metabolism 2010;101(2-3):200-4.
2008: Marion B Coulter-Mackie; Qun Lian; Derek A Applegarth; Jennifer R Toone; Paula J Waters; Hilary D Vallance
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
Clinical biochemistry 2008;41(7-8):598-602.
2008: D P Dimmock; Q Zhang; Carlo Dionisi Vici; Rosalba Carrozzo; J Shieh; L-Y Tang; Cavatina Truong; E Schmitt; M Sifry-Platt; Simona Lucioli; Filippo M Santorelli; Can Ficicioglu; M Rodriguez; Klaas Jan Wierenga; Gregory M Enns; Nicola Longo; MH Lipson; Hilary D Vallance; William J Craigen; Fernando Scaglia; Lee-Jun C Wong
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation 2008;29(2):330-1.
2008: Jason Andrade; Paula J Waters; R Suneet Singh; Adeera Levin; Bee-Chin Toh; Hilary D Vallance; Sandra Sirrs
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 2008;3(1):139-45.
2006: Scot C Leary; Andre Mattman; Timothy Wai; David C Koehn; Lorne A Clarke; Suzanne Chan; Brenda Lomax; Patrice Eydoux; Hilary D Vallance; Eric A Shoubridge
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.
Molecular genetics and metabolism 2006;89(1-2):129-33.
2006: Hilary D Vallance; Tara J Morris; Marion B Coulter-Mackie; Joyce Lim-Steele; Michael Kaback
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Molecular genetics and metabolism 2006;87(2):122-7.
2005: Paula J Waters; Minesh Khashu; Yolanda Lillquist; Christof Senger; Andre Mattman; Michelle Demos; Kenneth D R Setchell; Anthony Rupar; patrick scott; Nenad Blau; Hilary D Vallance
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
Molecular genetics and metabolism 2005;86 Suppl 1():S148-52.
2005: Michelle K Demos; Paula J Waters; Hilary D Vallance; Yolanda Lillquist; Nawal Makhseed; Keith Hyland; Nenad Blau; Mary B Connolly
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Annals of neurology 2005;58(1):164-7.
2004: Hilary D Vallance
Biochemical approach to the investigation of pediatric mitochondrial disease.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2004;7(6):633-6.
2004: Hilary D Vallance; G Jeven; Douglas C Wallace; M D Brown
A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.
Pediatric cardiology 2004;25(5):538-40.
2004: Nawal Makhseed; Hilary D Vallance; M Potter; Paula J Waters; Lawrence T K Wong; Yolanda Lillquist; Marzia Pasquali; Cristina Amat di San Filippo; Nicola Longo
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
Journal of inherited metabolic disease 2004;27(6):778-80.
2004: Hilary D Vallance; T Chaba; L Clarke; G Taylor
Pseudo-lysosomal storage disease caused by EMLA cream.
Journal of inherited metabolic disease 2004;27(4):507-11.
2003: Nelson Tang; Joannie Hui; Collin K K Yong; Lawrence T K Wong; Derek A Applegarth; Hilary D Vallance; L K Law; Simon L M Fung; Tony W L Mak; Ying-Man Sung; Kam-Lau Cheung; Tai Fai Fok
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Clinical biochemistry 2003;36(2):145-9.
2001: PM Gillett; RA Schreiber; Gareth Jevon; David M Israel; T Warshawski; Hilary D Vallance; L A Clarke
Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly.
Journal of pediatric gastroenterology and nutrition 2001;33(2):216-20.
1999: Hilary D Vallance; L Bernard; M Rashed; D Chiu; G Le; Jennifer R Toone; Derek A Applegarth; Marion B Coulter-Mackie
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Human mutation 1999;13(4):338.
1998: Jennifer R Toone; Derek A Applegarth; Hilary D Vallance; R D Wilson
Early amniocentesis for biochemical genetic prenatal diagnosis.
Lancet 1998;351(9110):1207-8.
1997: Marion B Coulter-Mackie; Derek A Applegarth; Jennifer R Toone; Hilary D Vallance
DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
Clinical biochemistry 1997;30(1):57-61.
1995: D A Applegarth; Hilary D Vallance; D Seccombe
Are patients with homocystinuria being missed?
European journal of pediatrics 1995;154(7):589.
1994: Hilary D Vallance; Jennifer R Toone; Derek A Applegarth
Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin-2 (IL-2) stimulated lymphocytes.
Journal of inherited metabolic disease 1994;17(5):627-8.
1991: Hilary D Vallance; Gillian Lockitch
Rapid, semi-quantitative assay of C-reactive protein evaluated.
Clinical chemistry 1991;37(11):1981-2.