Publications by authors named "Brian M Gilfix"

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Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysis.
David Watkins, Caitlin Zacharias, Kyana Arbabian-Urquilla, Krithika Ragupathi, Brian M Gilfix

Mol Genet Metab· December 2025

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Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature.
Chloé J Geerts, Fernando Alvarez, Brian M Gilfix, Matthew J Schultz, Philippe M Campeau

Mol Genet Metab· November 2025

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Letter to the Editor.
Brian M Gilfix

Mol Genet Metab· June 2025

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Plasma phosphorylated tau181 outperforms [F] fluorodeoxyglucose positron emission tomography in the identification of early Alzheimer disease.
Kely Monica Quispialaya, Joseph Therriault, Antonio Aliaga, Cécile Tissot, Stijn Servaes, Brian M Gilfix

Eur J Neurol· December 2024

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Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation.
William G Bauer, David Watkins, Caitlin Zacharias, Brian M Gilfix, David S Rosenblatt

Mol Genet Metab· January 2024

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Evaluation of the performance of multiple immunoassay diagnostic platforms on the National Microbiology Laboratory SARS-CoV-2 National Serology Panel.
Antonia Dibernardo, Nikki Pl Toledo, Alyssia Robinson, Carla Osiowy, Elizabeth Giles, Brian M Gilfix

J Assoc Med Microbiol Infect Dis Can· September 2022

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Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.
Gawa Bidla, David S Rosenblatt, Brian M Gilfix

J Appl Lab Med· April 2021

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Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.
Mark Sorin, David Watkins, Brian M Gilfix, David S Rosenblatt

Mol Genet Metab· March 2021

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The Role of the ThyroSeq v3 Molecular Test in the Surgical Management of Thyroid Nodules in the Canadian Public Health Care Setting.
Tanya Chen, Brian M Gilfix, Juan Rivera, Nader Sadeghi, Keith Richardson

Thyroid· September 2020

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Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
Andre Mattman, Brian M Gilfix, Sharon Xuehui Chen, Mari L DeMarco, Barry D Kyle

Clin Biochem· July 2020

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Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Gawa Bidla, David Watkins, Céline Chéry, D Sean Froese, Courtney Ells, Brian M Gilfix

Mol Genet Metab· July 2020

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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.
Emma J Brasell, Lee Lee Chu, Murielle M Akpa, Idit Eshkar-Oren, Iris Alroy, Brian M Gilfix

PLoS One· March 2020

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Congenital disorders of glycosylation and the challenge of rare diseases.
Brian M Gilfix

Hum Mutat· August 2019

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Congenital Disorders of Glycosylation: A Pipeline to Treatment?
Brian M Gilfix

Hum Mutat· February 2017

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The Importance of Assessment of Function in the Era of In Silico Analysis.
Brian M Gilfix

Hum Mutat· November 2016

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Review of the effect of intravenous lipid emulsion on laboratory analyses.
Ami M Grunbaum, Brian M Gilfix, Robert S Hoffman, Valéry Lavergne, Martin Morris

Clin Toxicol (Phila)· June 2016

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Methodology for AACT evidence-based recommendations on the use of intravenous lipid emulsion therapy in poisoning.
Sophie Gosselin, Martin Morris, Andrea Miller-Nesbitt, Robert S Hoffman, Bryan D Hayes, Brian M Gilfix

Clin Toxicol (Phila)· July 2015

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Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.
Zuhier Awan, Sumayah Aljenedil, David S Rosenblatt, Jean Cusson, Brian M Gilfix

Thromb J· December 2014

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Comment on complications following antidotal use of intravenous lipid emulsion therapy (Levine et Al., J Med Toxicol 2013).
Ami M Grunbaum, Sophie Gosselin, Brian M Gilfix, David W Blank

J Med Toxicol· June 2014

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Utility of measuring serum or red blood cell folate in the era of folate fortification of flour.
Brian M Gilfix

Clin Biochem· May 2014

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High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Margaret L Illson, Laura Dempsey-Nunez, Jana Kent, Qiuying Huang, Alison Brebner, Brian M Gilfix

Mol Genet Metab· March 2014

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High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
Laura Dempsey-Nunez, Margaret L Illson, Jana Kent, Qiuying Huang, Alison Brebner, Brian M Gilfix

Mol Genet Metab· November 2012

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Analytical interferences resulting from intravenous lipid emulsion.
Ami M Grunbaum, Brian M Gilfix, Sophie Gosselin, David W Blank

Clin Toxicol (Phila)· November 2012

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A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG).
Fabienne Parente, Nicholas Ah Mew, Jaak Jaeken, Brian M Gilfix

Clin Chim Acta· January 2010

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An unusual melting curve on a LightCycler due to a new mutation in methylenetetrahydrofolate reductase.
Brian M Gilfix

Genet Test Mol Biomarkers· December 2009

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