Paula J Waters
8PUBLICATIONS
24CO-AUTHORS
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Publications (8)
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|Mar 02, 2026
Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias.Denis Cyr, Bruno Maranda, Paula J Waters
|Sep 27, 2024
Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.Marc Ghannoum, Paula J Waters, Knut Erik Hovda
|Aug 23, 2024
In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1.Jean-François Rivest, Sophie Carter, Claudia Goupil
|Jun 19, 2024
Analysis of Globotriaosylceramide (Gb3) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry.Michel Boutin, Bruno Maranda, Paula J Waters
|Sep 10, 2021
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.Fanny Thuriot, Elaine Gravel, Katherine Hodson
|Apr 28, 2020
Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.Fanny Thuriot, Elaine Gravel, Caroline Buote
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Frequent Collaborators
2 joint publications
Jean-François Rivest
2 joint publications
Denis Cyr
2 joint publications
Fanny Thuriot
2 joint publications
Yannick Doyon
1 joint publications
Daniel Agudelo
1 joint publications
Sophie Carter
1 joint publications
Danielle K Bourque
1 joint publications
Alexis Duringer
1 joint publications
Sébastien Levesque
1 joint publications
Jeremy Loehr
