Hilary Vallance: search on Z-Library

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1

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

Sharma, Mehul A., Lee, Ja Young J., Tam, Andrea, Sattha, Beheroze, Mackenzie, Ian R., Vallance, Hilary D., Sirrs, Sandra, Hannah-Shmouni, Fady, Côté, Hélène C.F., Mattman, .Andre

Journal:

Year:

2018

Language:

english

File:

PDF, 637 KB

english, 2018

2

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

Mujica-Coopman, Maria F, Tan, Amy, Schroder, Theresa H, Sinclair, Graham, Vallance, Hilary D, Lamers, Yvonne

Journal:

Journal of Nutrition

Year:

2019

Language:

english

File:

PDF, 1.46 MB

english, 2019

3

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

Fox, Danya A., Ronsley, Rebecca, Khowaja, Asif R., Haim, Alon, Vallance, Hilary, Sinclair, Graham, Amed, Shazhan

Journal:

The Journal of Pediatrics

Year:

2020

File:

PDF, 558 KB

2020

4

Identification of 6 new mutations in the iduronate sulfatase gene

Hilary D. Vallance, Lynn Bernard, Michael Rashed, Doris Chiu, Grace Le, Jenny Toone, Derek A. Applegarth, Marion Coulter-Mackie

Journal:

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

5

Oral zinc therapy in the treatment of α-mannosidosis

Lawrence T. K. Wong, Hilary Vallance, Angela Savage, A. G. F. Davidson, Derek Applegarth

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 510 KB

english, 1993

6

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

Majid Alfadhel, Yolanda P. Lillquist, Paula J. Waters, Graham Sinclair, Eduard Struys, Deborah McFadden, Glenda Hendson, Lauren Hyams, John Shoffner, Hilary D. Vallance

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 612 KB

english, 2011

7

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

Michelle K. Demos, Paula J. Waters, Hilary D. Vallance, Yolanda Lillquist, Nawal Makhseed, Keith Hyland, Nenad Blau, Mary B. Connolly

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 68 KB

english, 2005

8

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

Hilary Vallance, Applegarth Derek

Journal:

Clinical Biochemistry

Year:

1994

Language:

english

File:

PDF, 352 KB

english, 1994

9

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

Marion B. Coulter-Mackie, Qun Lian, Derek A. Applegarth, Jennifer Toone, Paula J. Waters, Hilary Vallance

Journal:

Clinical Biochemistry

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

10

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

Nelson L.S. 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, Y.M. Sung, K.L. Cheung, T.F. Fok

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 151 KB

english, 2003

11

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

Marion B. Coulter-Mackie, Derek A. Applegarth, Jennifer Toone, Hilary Vallance

Journal:

Clinical Biochemistry

Year:

1997

Language:

english

File:

PDF, 470 KB

english, 1997

12

The Brugada ECG Pattern in a Neonate

SHUBHAYAN SANATANI, NAWAL MAHKSEED, HILARY VALLANCE, RAMON BRUGADA

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

13

Are patients with homocystinuria being missed?

Derek A. Applegarth, Hilary D. Vallance, David Seccombe

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 101 KB

english, 1995

14

Biochemical approach to the investigation of pediatric mitochondrial disease

Hilary Vallance

Journal:

Pediatric and Developmental Pathology

Year:

2004

Language:

english

File:

PDF, 344 KB

english, 2004

15

Biochemical Approach to the Investigation of Pediatric Mitochondrial Disease

Hilary Vallance

Journal:

Pediatric and Developmental Pathology

Year:

2004

Language:

english

File:

PDF, 66 KB

english, 2004

16

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

Francis Y.M. Choy, Karen Wong, Hilary D. Vallance, Virginia Baldwin

Journal:

Pediatric and Developmental Pathology

Year:

2000

Language:

english

File:

PDF, 145 KB

english, 2000

17

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

Francis Y.M. Choy, Karen Wong, Hilary D. Vallance, Virginia Baldwin

Journal:

Pediatric and Developmental Pathology

Year:

2000

Language:

english

File:

PDF, 145 KB

english, 2000

18

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

Paula J. Waters, Minesh Khashu, Yolanda Lillquist, Christof Senger, Andre Mattman, Michelle Demos, Kenneth Setchell, Anthony Rupar, Patrick Scott, Nenad Blau, Hilary D. Vallance

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 216 KB

english, 2005

19

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

Hilary Vallance, Tara J. Morris, Marion Coulter-Mackie, Joyce Lim-Steele, Michael Kaback

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 252 KB

english, 2006

20

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 313 KB

english, 2006

21

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

Cheryl R. Greenberg, Louise A. Dilling, G. Robert Thompson, Lorne E. Seargeant, James C. Haworth, Susan Phillips, Alicia Chan, Hilary D. Vallance, Paula J. Waters, Graham Sinclair, Yolanda Lillquist,

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 212 KB

english, 2009

22

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

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 Vallance

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 312 KB

english, 2010

23

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

Catherine Brunel-Guitton, Brett Casey, Marion Coulter-Mackie, Hilary Vallance, Deborah Hewes, Sylvia Stockler-Ipsiroglu, Saadet Mercimek-Mahmutoglu

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 267 KB

english, 2011

24

Effect of a treatment strategy of tight control for rheumatoid arthritis (the TICORA study): a single-blind randomised controlled trial

Catriona Grigor, Hilary Capell, Anne Stirling, Alex D McMahon, Peter Lock, Ramsay Vallance, Wilma Kincaid, Duncan Porter

Journal:

Year:

2004

Language:

english

File:

PDF, 189 KB

english, 2004

25

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

Khalid Al-Thihli, Hatim Ebrahim, Derralynn A. Hughes, Millan Patel, Marion Tipple, Ramona Salvarinova, Jane Gardiner, Hilary Vallance, Paula J. Waters

Journal:

Year:

2012

Language:

english

File:

PDF, 203 KB

english, 2012

26

Genetic testing

G.H. Hall, W.T. Hamilton, Patrick Vallance, ViiveM. Howell, Leslie Burnett, Clifford Kay, Hilary Harris, Rodney Harris

Journal:

Year:

1996

Language:

english

File:

PDF, 323 KB

english, 1996

27

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

Grazioli, Serge, Bennett, Mary, Hildebrand, Kyla J., Vallance, Hilary, Turvey, Stuart E., Junker, Anne K.

Journal:

Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 230 KB

english, 2014

28

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

Hartnett, Carol, Salvarinova-Zivkovic, Ramona, Yap-Todos, Eva, Cheng, Barbara, Giezen, Alette, Horvath, Gabriella, Lillquist, Yolanda, Vallance, Hilary, Stockler-Ipsiroglu, Sylvia

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 204 KB

english, 2013

29

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

Metcalfe, Amy, Langlois, Sylvie, MacFarlane, Julie, Vallance, Hilary, Joseph, K. S.

Journal:

Prenatal Diagnosis

Year:

2014

Language:

english

File:

PDF, 152 KB

english, 2014

30

Newborn Screening by Tandem Mass Spectrometry: Ethical and Social Issues

Denise Avard, Hilary Vallance, Cheryl Greenberg and Beth Potter

Journal:

Canadian Journal of Public Health / Revue Canadienne de Sante'e Publique

Year:

2007

Language:

english

File:

PDF, 536 KB

english, 2007

31

Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada

Gabriella A. Horvath, S. Olpin, A.G.F. Davidson, B.S. Andresen, Sylvia G. Stockler-Ipsiroglu, Jan Palaty, Yolanda P. Lillquist, Judie Nelson, Paula J. Waters and Hilary Vallance

Journal:

Canadian Journal of Public Health / Revue Canadienne de Sante'e Publique

Year:

2008

Language:

english

File:

PDF, 1.36 MB

english, 2008

32

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

Al-Thihli, Khalid, Sinclair, Graham, Sirrs, Sandra, Mezei, Michelle, Nelson, Judie, Vallance, Hilary

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 371 KB

english, 2014

33

Carrier Testing for Autosomal- Recessive Disorders

Vallance, Hilary, Ford, Jason

Journal:

Critical Reviews in Clinical Laboratory Sciences

Year:

2003

Language:

english

File:

PDF, 215 KB

english, 2003

34

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

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

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 60 KB

english, 2014

35

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

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

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 59 KB

english, 2014

36

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

Rakic, Bojana, Sinclair, Graham, Salvarinova, Ramona, Vallance, Hilary

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 50 KB

english, 2014

37

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

Janer, Alexandre, van Karnebeek, Clara DM, Sasarman, Florin, Antonicka, Hana, Al Ghamdi, Malak, Shyr, Casper, Dunbar, Mary, Stockler-Ispiroglu, Sylvia, Ross, Colin J, Vallance, Hilary, Dionne, Janis,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.66 MB

english, 2015

38

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

Schroder, Theresa H., Mattman, Andre, Sinclair, Graham, Vallance, Hilary D., Lamers, Yvonne

Journal:

Clinical Biochemistry

Year:

2016

Language:

english

File:

PDF, 399 KB

english, 2016

39

Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

Pfeffer, Gerald, Waters, Paula J., Maguire, John, Vallance, Hilary D., Wong, V. A., Mezei, Michelle M.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2012

File:

PDF, 249 KB

2012

40

Mucopolysaccharidosis Type VII (Sly Syndrome) Presenting as Neonatal Cholestasis With Hepatosplenomegaly

Gillett, Peter M., Schreiber, Richard A., Jevon, Gareth P., Israel, David M., Warshawski, Tom, Vallance, Hilary, Clarke, Lorne A.

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2001

Language:

english

File:

PDF, 331 KB

english, 2001

41

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

Sinclair, Graham B., van Karnebeek, Clara D.M., Ester, Manuel, Boyd, Frances, Nelson, Tanya, Stockler-Ipsiroglu, Sylvia, Vallance, Hilary

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 942 KB

english, 2016

42

The Liver Biopsy and the Jaundiced Infant

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

Journal:

Pathology Case Reviews

Year:

1999

File:

PDF, 553 KB

1999

43

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

Denise Avard,Hilary Vallance,Cheryl Greenberg…

Journal:

Life Sciences Society and Policy

Year:

2006

Language:

english

File:

PDF, 358 KB

english, 2006

44

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

Schroder, Theresa H., Sinclair, Graham, Mattman, Andre, Jung, Benjamin, Barr, Susan I., Vallance, Hilary D., Lamers, Yvonne

Journal:

British Journal Of Nutrition

Year:

2017

Language:

english

File:

PDF, 399 KB

english, 2017

45

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

Sinclair, Graham, Collins, Sorcha, Arbour, Laura, Vallance, Hilary

Journal:

Paediatrics & child health

Year:

2019

Language:

english

File:

PDF, 162 KB

english, 2019

46

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

Sinclair, Graham, Collins, Sorcha, Arbour, Laura, Vallance, Hilary

Journal:

Paediatrics & child health

Year:

2019

File:

PDF, 162 KB

2019

47

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

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

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2016

Language:

english

File:

PDF, 296 KB

english, 2016

48

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

Sinclair, Graham, McMahon, Vanessa, Schellenberg, Amy, Nelson, Tanya N., Chilvers, Mark, Vallance, Hilary

Journal:

International Journal of Neonatal Screening

Year:

2020

File:

PDF, 514 KB

2020