Vitamin B-12 Biomarkers Reviewed: Holotranscobalamin Allows Identification of Vitamin B12 Deficiency in Children with Short-Bowel Syndrome
Current developments in nutrition
St-Cyr C and Lamers Y and Casey L and Saunders M and Sinclair G and Mattman A
05/2020

Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia
The Journal of Pediatrics
Danya A. Fox and Rebecca Ronsley and Asif R. Khowaja and Alon Haim and Hilary Vallance and Graham Sinclair and Shazhan Amed
DOI: 10.1016/j.jpeds.2019.12.057
05/2020

Acute Shoshin beriberi syndrome immediately post–kidney transplant with rapid recovery after thiamine administration
Pediatric Transplantation
Elias, I.M. and Sinclair, G. and Blydt-Hansen, T.D.
DOI: 10.1111/petr.13493
2019

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
2019

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 Drögemoller, B. and Shyr, C. and Mwenifumbo, J. and Elliott, A.M. and Lee, J. and Ghani, A. and Stöckler, 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
2019

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
2019

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
2019

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis
Neuropediatrics
Almomen, M. and Sinclair, G. and Stockler-Ipsiroglu, S.G. and Horvath, G.A.
DOI: 10.1055/s-0038-1667171
2018

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.
Cold Spring Harbor molecular case studies
Bourne SC and Townsend KN and Shyr C and Matthews A and Lear SA and Attariwala R and Lehman A and Wasserman WW and van Karnebeek C and Sinclair G and Vallance H and Gibson WT
DOI: 10.1101/mcs.a001156
PubMed: 28050599
01/2017

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome
American Journal of Medical Genetics, Part A
Armstrong, L. and Tarailo-Graovac, M. and Sinclair, G. and Seath, K.I. and Wasserman, W.W. and Ross, C.J. and van Karnebeek, C.D.M.
DOI: 10.1002/ajmg.a.37621
2017

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
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Lehman, A. and Thouta, S. and Mancini, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Adam, S. and du Souich, C. and Elliott, A.M. and Nelson, T.N. and van Karnebeek, C. and Friedman, J.M. and Boelman, C. and Bolbocean, C. and Buerki, S.E. and Candido, T. and Eydoux, P. and Evans, D.M. and Gibson, W. and Horvath, G. and Huh, L. and Sinclair, G. and Tarling, T. and Toyota, E.B. and Townsend, K.N. and Van Allen, M.I. and Vercauteren, S. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.
DOI: 10.1016/j.ajhg.2017.05.016
2017

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
American Journal of Human Genetics
Guella, I. and McKenzie, M.B. and Evans, D.M. and Buerki, S.E. and Toyota, E.B. and Van Allen, M.I. and Adam, S. and Boelman, C. and Bolbocean, C. and Candido, T. and Eydoux, P. and Horvath, G. and Huh, L. and Nelson, T.N. and Sinclair, G. and van Karnebeek, C. and Vercauteren, S. and Suri, M. and Elmslie, F. and Simon, M.E.H. and van Gassen, K.L.I. and Héron, D. and Keren, B. and Nava, C. and Connolly, M.B. and Demos, M. and Farrer, M.J.
DOI: 10.1016/j.ajhg.2017.07.004
2017

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
Journal of Inborn Errors of Metabolism and Screening
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
2016

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
2016

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 Drögemöller, 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
2016

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation
Molecular Genetics and Metabolism
van Karnebeek, C.D.M. and Mohammadi, T. and Tsao, N. and Sinclair, G. and Sirrs, S. and Stockler, S. and Marra, C.
DOI: 10.1016/j.ymgme.2014.07.004
2015

The genotypic and phenotypic spectrum of PIGA deficiency
Orphanet Journal of Rare Diseases
Tarailo-Graovac, M. and Sinclair, G. and Stockler-Ipsiroglu, S. and Van Allen, M. and Rozmus, J. and Shyr, C. and Biancheri, R. and Oh, T. and Sayson, B. and Lafek, M. and Ross, C.J. and Robinson, W.P. and Wasserman, W.W. and Rossi, A. and Van Karnebeek, C.D.M.
DOI: 10.1186/s13023-015-0243-8
2015

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Orphanet Journal of Rare Diseases
Sirrs, S. and Van Karnebeek, C.D.M. and Peng, X. and Shyr, C. and Tarailo-Graovac, M. and Mandal, R. and Testa, D. and Dubin, D. and Carbonetti, G. and Glynn, S.E. and Sayson, B. and Robinson, W.P. and Han, B. and Wishart, D. and Ross, C.J. and Wasserman, W.W. and Hurwitz, T.A. and Sinclair, G. and Kaczocha, M.
DOI: 10.1186/s13023-015-0248-3
2015

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
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
2014

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Neurogenetics
Armstrong, L. and Biancheri, R. and Shyr, C. and Rossi, A. and Sinclair, G. and Ross, C.J. and Tarailo-Graovac, M. and Wasserman, W.W. and Van Karnebeek, C.D.M.
DOI: 10.1007/s10048-014-0411-3
2014

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
2014

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing
Molecular Genetics and Metabolism
Yu, H. and van Karnebeek, C. and Sinclair, G. and Hill, A. and Cui, H. and Zhang, V.W. and Wong, L.-J.
DOI: 10.1016/j.ymgme.2013.09.018
2013

Acylcarnitine profile in thyroid disease
Clinical Biochemistry
Wong, S. and Hannah-Shmouni, F. and Sinclair, G. and Sirrs, S. and Dahl, M. and Mattman, A.
DOI: 10.1016/j.clinbiochem.2012.10.006
2013

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency
Molecular Genetics and Metabolism
Mercimek-Mahmutoglu, S. and Dunbar, M. and Friesen, A. and Garret, S. and Hartnett, C. and Huh, L. and Sinclair, G. and Stockler, S. and Wellington, S. and Pouwels, P.J.W. and Salomons, G.S. and Jakobs, C.
DOI: 10.1016/j.ymgme.2011.09.037
2012

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
2012

Enhanced interpretation of newborn screening results without analyte cutoff values
Genetics in Medicine
Marquardt, G. and Currier, R. and McHugh, D.M.S. and Gavrilov, D. and Magera, M.J. and Matern, D. and Oglesbee, D. and Raymond, K. and Rinaldo, P. and Smith, E.H. and Tortorelli, S. and Turgeon, C.T. and Lorey, F. and Wilcken, B. and Wiley, V. and Greed, L.C. and Lewis, B. and Boemer, F. and Schoos, R. and Marie, S. and Vincent, M.-F. and Sica, Y.C. and Domingos, M.T. and Al-Thihli, K. and Sinclair, G. and Al-Dirbashi, O.Y. and Chakraborty, P. and Dymerski, M. and Porter, C. and Manning, A. and Seashore, M.R. and Quesada, J. and Reuben, A. and Chrastina, P. and Hornik, P. and Atef Mandour, I. and Atty Sharaf, S.A. and Bodamer, O. and Dy, B. and Torres, J. and Zori, R. and Cheillan, D. and Vianey-Saban, C. and Ludvigson, D. and Stembridge, A. and Bonham, J. and Downing, M. and Dotsikas, Y. and Loukas, Y.L. and Papakonstantinou, V. and Zacharioudakis, G.S.A. and Baráth, K. and Karg, E. and Franzson, L. and Jonsson, J.J. and Breen, N.N. and Lesko, B.G. and Berberich, S.L. and Turner, K. and Ruoppolo, M. and Scolamiero, E. and Antonozzi, I. and Carducci, C. and Caruso, U. and Cassanello, M. and La Marca, G. and Pasquini, E. and Di Gangi, I.M. and Giordano, G. and Camilot, M. and Teofoli, F. and Manos, S.M. and Peterson, C.K. and Mayfield Gibson, S.K. and Sevier, D.W. and Lee, S.-Y. and Park, H.-D. and Khneisser, I. and Browning, P. and Gulamali-Majid, F. and Watson, M.S. and Eaton, R.B. and Sahai, I. and Ruiz, C. and Torres, R. and Seeterlin, M.A. and Stanley, E.L. and Hietala, A. and McCann, M. and Campbell, C. and Hopkins, P.V. and De Sain-Van Der Velden, M.G. and Elvers, B. and Morrissey, M.A. and Sunny, S. and Knoll, D. and Webster, D. and Frazier, D.M. and McClure, J.D. and Sesser, D.E. and Willis, S.A. and Rocha, H. and Vilarinho, L. and John, C. and Lim, J. and Caldwell, S.G. and Tomashitis, K. and Cast?eiras Ramos, D.E. and Cocho De Juan, J.A. and Rueda Fernández, I. and Yahyaoui Mac?as, R. and Egea-Mellado, J.M. and González-Gallego, I. and Delgado Pecellin, C. and García-Valdecasas Bermejo, M.S. and Chien, Y.-H. and Hwu, W.-L. and Childs, T. and McKeever, C.D. and Tanyalcin, T. and Abdulrahman, M. and Queijo, C. and Lemes, A. and Davis, T. and Hoffman, W. and Mei, B. and Hoffman, G.L.
DOI: 10.1038/gim.2012.2
2012

Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease
Molecular Genetics and Metabolism
Mercimek-Mahmutoglu, S. and Sinclair, G. and van Dooren, S.J.M. and Kanhai, W. and Ashcraft, P. and Michel, O.J. and Nelson, J. and Betsalel, O.T. and Sweetman, L. and Jakobs, C. and Salomons, G.S.
DOI: 10.1016/j.ymgme.2012.07.022
2012

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report
Molecular Genetics and Metabolism
Salvarinova-Zivkovic, R. and Hartnett, C. and Sinclair, G. and Dix, D. and Horvath, G. and Lillquist, Y. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgme.2012.01.007
2012

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials
Molecular Genetics and Metabolism
van Karnebeek, C.D.M. and Hartmann, H. and Jaggumantri, S. and Bok, L.A. and Cheng, B. and Connolly, M. and Coughlin, C.R. and Das, A.M. and Gospe, S.M. and Jakobs, C. and van der Lee, J.H. and Mercimek-Mahmutoglu, S. and Meyer, U. and Struys, E. and Sinclair, G. and Van Hove, J. and Collet, J.-P. and Plecko, B.R. and Stockler, S.
DOI: 10.1016/j.ymgme.2012.09.006
2012

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.
2011

Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: Clinical and biochemical insights from infant rats
Molecular Genetics and Metabolism
Schutz, P.W. and Struys, E.A. and Sinclair, G. and Stockler, S.
DOI: 10.1016/j.ymgme.2011.02.015
2011

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-González, I. and Ingham, C.A. and Ivanova, M. and Jacox, W.B. and John, C. and Johnson, J.P. and Jónsson, 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 García-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 Döbeln, 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
2011

Glycine cleavage enzyme complex: Molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts
Biochemistry and Cell Biology
Zay, A. and Choy, F.Y.M. and Patrick, C. and Sinclair, G.
DOI: 10.1139/o10-156
2011

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
2011

Fish odour syndrome
CMAJ
Li, M. and Al-Sarraf, A. and Sinclair, G. and Frohlich, J.
DOI: 10.1503/cmaj.100642
2011

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
2010

Treatment of intractable epilepsy in a female with SLC6A8 deficiency
Molecular Genetics and Metabolism
Mercimek-Mahmutoglu, S. and Connolly, M.B. and Poskitt, K.J. and Horvath, G.A. and Lowry, N. and Salomons, G.S. and Casey, B. and Sinclair, G. and Davis, C. and Jakobs, C. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgme.2010.08.016
2010

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
2009

Heparin cofactor II-thrombin complex: A biomarker of MPS disease
Molecular Genetics and Metabolism
Randall, D.R. and Colobong, K.E. and Hemmelgarn, H. and Sinclair, G.B. and Hetty, E. and Thomas, A. and Bodamer, O.A. and Volkmar, B. and Fernhoff, P.M. and Casey, R. and Chan, A.K. and Mitchell, G. and Stockler, S. and Melancon, S. and Rupar, T. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2008.05.001
2008

Generation of a conditional knockout of murine glucocerebrosidase: Utility for the study of Gaucher disease
Molecular Genetics and Metabolism
Sinclair, G.B. and Jevon, G. and Colobong, K.E. and Randall, D.R. and Choy, F.Y.M. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2006.09.008
2007

Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences
Biochemistry and Cell Biology
Sinclair, G. and Pfeifer, T.A. and Grigliatti, T.A. and Choy, F.Y.M.
DOI: 10.1139/o05-165
2006

Heparin cofactor II-thrombin complex in MPS I: A biomarker of MPS disease
Molecular Genetics and Metabolism
Randall, D.R. and Sinclair, G.B. and Colobong, K.E. and Hetty, E. and Clarke, L.A.
DOI: 10.1016/j.ymgme.2006.01.005
2006

Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris
Protein Expression and Purification
Sinclair, G. and Choy, F.Y.M.
DOI: 10.1016/S1046-5928(02)00526-0
2002

Heterologous expression and characterization of a rare gaucher disease mutation (c.481C > T) from a canadian aboriginal population using archival tissue samples
Molecular Genetics and Metabolism
Sinclair, G. and Choy, F.Y.M. and Ferreira, P.
DOI: 10.1006/mgme.2001.3215
2001

A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease
Blood Cells, Molecules, and Diseases
Sinclair, G. and Choy, F.Y.M. and Humphries, L.
DOI: 10.1006/bcmd.1998.0210
1998