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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

PloS one, 2019-12, Vol.14 (12), p.e0223954-e0223954

2019

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Utility of measuring serum or red blood cell folate in the era of folate fortification of flour

Clinical biochemistry, 2014-05, Vol.47 (7-8), p.533-538

Gilfix, Brian M.

2014

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Congenital disorders of glycosylation and the challenge of rare diseases

Human mutation, 2019-08, Vol.40 (8), p.1010-1012, Article humu.23829

Gilfix, Brian M.

2019

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A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG)

Clinica chimica acta, 2010-01, Vol.411 (1), p.64-66

2010

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Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC

Molecular genetics and metabolism, 2021-03, Vol.132 (3), p.155-161

2021

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Congenital Disorders of Glycosylation: A Pipeline to Treatment?

Human mutation, 2017-02, Vol.38 (2), p.127-127

Gilfix, Brian M.

2017

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The Importance of Assessment of Function in the Era of In Silico Analysis

Human mutation, 2016-11, Vol.37 (11), p.1119-1119

Gilfix, Brian M.

2016

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Methodology for AACT evidence-based recommendations on the use of intravenous lipid emulsion therapy in poisoning

Clinical toxicology (Philadelphia, Pa.), 2015-07, Vol.53 (6), p.557-564

2015

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Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation

Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.108111-108111, Article 108111

2024

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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

Thyroid (New York, N.Y.), 2020-09, Vol.30 (9), p.1280-1287

2020

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Review of the effect of intravenous lipid emulsion on laboratory analyses

Clinical toxicology (Philadelphia, Pa.), 2016-02, Vol.54 (2), p.92-102

2016

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Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency

Molecular genetics and metabolism, 2020-07, Vol.130 (3), p.179-182

2020

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Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting

The journal of applied laboratory medicine, 2021-04, Vol.6 (3), p.715-728

2021

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Analytical interferences resulting from intravenous lipid emulsion

Clinical toxicology (Philadelphia, Pa.), 2012-11, Vol.50 (9), p.812-817

2012

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Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison

Clinical biochemistry, 2020-07, Vol.81, p.27-33

2020

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High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.363-367

2012

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Apolipoprotein E4 Allele as a Predictor of Cholinergic Deficits and Treatment Outcome in Alzheimer Disease

Proceedings of the National Academy of Sciences - PNAS, 1995-12, Vol.92 (26), p.12260-12264

1995

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Evaluation of the performance of multiple immunoassay diagnostic platforms on the National Microbiology Laboratory SARS-CoV-2 National Serology Panel

Journal of the Association of Medical Microbiology and Infectious Disease Canada = Journal officiel de l'Association pour la microbiologie médicale et l'infectiologie Canada, 2022-09, Vol.7 (3), p.186-195

2022

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Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

Thrombosis journal, 2014-12, Vol.12 (1), p.30-30, Article 30

2014

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High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.86-89

2013

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Comment on Complications Following Antidotal Use of Intravenous Lipid Emulsion Therapy (Levine et al., J Med Toxicol 2013)

Journal of medical toxicology, 2014-06, Vol.10 (2), p.245-246

2014

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Vitamin B12 and homocysteine

Canadian Medical Association journal (CMAJ), 2005-11, Vol.173 (11), p.1360-1360

Gilfix, Brian M

2005

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An unusual melting curve on a LightCycler due to a new mutation in methylenetetrahydrofolate reductase

Genetic testing and molecular biomarkers, 2009-12, Vol.13 (6), p.769-771

Gilfix, Brian M

2009

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Novel reductant for determination of total plasma homocysteine

Clinical chemistry (Baltimore, Md.), 1997-04, Vol.43 (4), p.687-688

1997

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Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism

Molecular genetics and metabolism, 2008-09, Vol.95 (1-2), p.104-106

2008

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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

Utility of measuring serum or red blood cell folate in the era of folate fortification of flour

Congenital disorders of glycosylation and the challenge of rare diseases

A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG)

Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC

Congenital Disorders of Glycosylation: A Pipeline to Treatment?

The Importance of Assessment of Function in the Era of In Silico Analysis

Methodology for AACT evidence-based recommendations on the use of intravenous lipid emulsion therapy in poisoning

Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation

The Role of the ThyroSeq v3 Molecular Test in the Surgical Management of Thyroid Nodules in the Canadian Public Health Care Setting

Review of the effect of intravenous lipid emulsion on laboratory analyses

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency

Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting

Analytical interferences resulting from intravenous lipid emulsion

Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

Apolipoprotein E4 Allele as a Predictor of Cholinergic Deficits and Treatment Outcome in Alzheimer Disease

Evaluation of the performance of multiple immunoassay diagnostic platforms on the National Microbiology Laboratory SARS-CoV-2 National Serology Panel

Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria

Comment on Complications Following Antidotal Use of Intravenous Lipid Emulsion Therapy (Levine et al., J Med Toxicol 2013)

Vitamin B12 and homocysteine

An unusual melting curve on a LightCycler due to a new mutation in methylenetetrahydrofolate reductase

Novel reductant for determination of total plasma homocysteine

Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism

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