Paula Waters

Publications

Articles

• Denis Cyr, Bruno Maranda, Paula J. Waters. (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. JIMD Reports. DOI
• Berrahmoune, S., Dassi, C., Pekeles, H., Cheung, A.C.T., Gagnon, T., Waters, P.J., Buhas, D., Myers, K.A. (2025). Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial. Journal of Neurology. DOI
• Boutin, M., Maranda, B., Waters, P.J. (2024). Analysis of Globotriaosylceramide (Gb3) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry. Current Protocols. DOI
• Ghannoum, M., Waters, P.J., Hovda, K.E., Choquette, G., Elgstøen, K.B.P., Nygaard, I., Rootwelt, H., Hickey, D., Yazdani, M., Bourque, D.K. (2024). Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters. Clinical Toxicology. DOI
• Rivest, J.-F., Carter, S., Goupil, C., Antérieux, P., Cyr, D., Ung, R.-V., Dal Soglio, D., Mac-Way, F., Waters, P.J., Paganelli, M., Doyon, Y. (2024). In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1. Genetics. DOI
• Pekeles, H., Berrahmoune, S., Dassi, C., Cheung, A.C.T., Gagnon, T., Waters, P.J., Eberhard, R., Buhas, D., Myers, K.A. (2024). Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial. eClinicalMedicine. DOI
• van Vliet, K., Dijkstra, A.M., Bouva, M.J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M.G., Koop, K., Rossi, A., Thomas, J.A., Patera, C.A., Kiewiet, M.B.G., Waters, P.J., Cyr, D., Boelen, A., van Spronsen, F.J., Heiner-Fokkema, M.R. (2023). Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1. Journal of Inherited Metabolic Disease. DOI
• Wang, Y., Yang, H., Geerts, C., Furtos, A., Waters, P., Cyr, D., Wang, S., Mitchell, G.A. (2023). The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors. Molecular Genetics and Metabolism. DOI
• Yang, H., Wang, Y., Tang, M.-C., Waters, P., Wang, S., Allard, P., Ryan, R.O., Nuyt, A.-M., Paradis, P., Schiffrin, E.L., Furtos, A., Mitchell, G.A. (2022). Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers. Molecular Genetics and Metabolism. DOI
• Zhao, C., Wang, Y., Yang, H., Wang, S., Tang, M.-C., Cyr, D., Parente, F., Allard, P., Waters, P., Furtos, A., Yang, G., Mitchell, G.A. (2022). Propionic acidemia in mice: Liver acyl-CoA levels and clinical course. Molecular Genetics and Metabolism. DOI
• Thuriot, F., Gravel, E., Hodson, K., Ganopolsky, J., Rakic, B., Waters, P.J., Gravel, S., Lévesque, S. (2021). Molecular diagnosis of pompe disease in the genomic era: Correlation with acid alpha-glucosidase activity in dried blood spots. Journal of Clinical Medicine. DOI
• Thuriot, F., Gravel, E., Buote, C., Doyon, M., Lapointe, E., Marcoux, L., Larue, S., Nadeau, A., Chénier, S., Waters, P.J., Jacques, P.-E., Gravel, S., Lévesque, S. (2020). Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. Neurology: Genetics. DOI
• Agudelo, D., Carter, S., Velimirovic, M., Duringer, A., Rivest, J.-F., Levesque, S., Loehr, J., Mouchiroud, M., Cyr, D., Waters, P.J., Laplante, M., Moineau, S., Goulet, A., Doyon, Y. (2020). Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9. Genome Research. DOI
• Levtova, A., Waters, P.J., Buhas, D., Lévesque, S., Auray-Blais, C., Clarke, J.T.R., Laframboise, R., Maranda, B., Mitchell, G.A., Brunel-Guitton, C., Braverman, N.E. (2019). Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Journal of Inherited Metabolic Disease. DOI
• Waters, P.J., Lace, B., Buhas, D., Gravel, S., Cyr, D., Boucher, R.-M., Bernard, G., Lévesque, S., Maranda, B. (2019). HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec. Molecular Genetics and Genomic Medicine. DOI
• Thuriot, F., Buote, C., Gravel, E., Chénier, S., Désilets, V., Maranda, B., Waters, P.J., Jacques, P.-E., Lévesque, S. (2018). Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data. Genetics in Medicine. DOI
• Yang, H., Rossignol, F., Cyr, D., Laframboise, R., Wang, S.P., Soucy, J.-F., Berthier, M.-T., Giguère, Y., Waters, P.J., Mitchell, G.A. (2018). Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles. Molecular Genetics and Metabolism Reports. DOI
• Yang, H., Al-Hertani, W., Cyr, D., Laframboise, R., Parizeault, G., Wang, S.P., Rossignol, F., Berthier, M.-T., Giguère, Y., Waters, P.J., Mitchell, G.A., Alvarez, F., Brunel-Guitton, C., Buhas, D., Dubois, J., Gosselin, M., Halac, U., Maranda, B., Mitchell, J., Turcotte, J.-F. (2017). Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. Journal of Medical Genetics. DOI
• Wortmann, S.B., Chen, M.A., Colombo, R., Pontoglio, A., Alhaddad, B., Botto, L.D., Yuzyuk, T., Coughlin, C.R., Descartes, M., Grűnewald, S., Maranda, B., Mills, P.B., Pitt, J., Potente, C., Rodenburg, R., Kluijtmans, L.A.J., Sampath, S., Pai, E.F., Wevers, R.A., ... White, S.M. (2017). Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Journal of Inherited Metabolic Disease. DOI
• Battat, R., Kopylov, U., Byer, J., Sewitch, M.J., Rahme, E., Nedjar, H., Zelikovic, E., Dionne, S., Bessissow, T., Afif, W., Waters, P.J., Seidman, E., Bitton, A. (2017). Vitamin B 12 deficiency in inflammatory bowel disease: A prospective observational pilot study. European Journal of Gastroenterology and Hepatology. DOI
• Lévesque, S., Auray-Blais, C., Gravel, E., Boutin, M., Dempsey-Nunez, L., Jacques, P.-E., Chenier, S., Larue, S., Rioux, M.-F., Al-Hertani, W., Nadeau, A., Mathieu, J., Maranda, B., Désilets, V., Waters, P.J., Keutzer, J., Austin, S., Kishnani, P. (2016). Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet Journal of Rare Diseases. DOI
• Waters, P.J., Thuriot, F., Clarke, J.T.R., Gravel, S., Watkins, D., Rosenblatt, D.S., Lévesque, S. (2016). Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene. Molecular Genetics and Metabolism Reports. DOI
• Thompson Legault, J., Strittmatter, L., Tardif, J., Sharma, R., Tremblay-Vaillancourt, V., Aubut, C., Boucher, G., Clish, C.B., Cyr, D., Daneault, C., Waters, P.J., Morin, C., Laprise, C., Rioux, J.D., Mootha, V.K., Des Rosiers, C., Aliskashani, A., Allen, B.G., Beauchamp, C., ... Villeneuve, J. (2015). A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell Reports. DOI
• Braun, R.J., Dumit, V.I., Monpays, C., Roucou, X., Serrano, D., St-Pierre, J., Waters, P.J., Bates, I., Gris, D. (2015). Struggling for breath in sherbrooke: 1st symposium on “one mitochondrion, many diseases” in Sherbrooke, Québec, Canada, March 11th, 2015. Microbial Cell. DOI
• Al-Thihli, K., Ebrahim, H., Hughes, D.A., Patel, M., Tipple, M., Salvarinova, R., Gardiner, J., Vallance, H., Waters, P.J. (2012). A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy. Gene. DOI
• Pfeffer, G., Waters, P.J., Maguire, J., Vallance, H.D., Wong, V.A., Mezei, M.M. (2012). Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia. Canadian Journal of Neurological Sciences. DOI
• Roefs, A.M., Waters, P.J., Moore, G.R.W., Dolman, P.J. (2012). Orbicularis oculi muscle biopsies for mitochondrial DNA analysis in suspected mitochondrial myopathy. British Journal of Ophthalmology. DOI
• Coulter-Mackie, M.B., Li, A., Lian, Q., Struys, E., Stockler, S., Waters, P.J. (2012). Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Molecular Genetics and Metabolism. DOI
• Mercimek-Mahmutoglu, S., Horvath, G.A., Coulter-Mackie, M., Nelson, T., Waters, P.J., Sargent, M., Struys, E., Jakobs, C., Stockler-Ipsiroglu, S., Connolly, M.B. (2012). Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. Pediatrics. DOI
• Mills, P.B., Footitt, E.J., Ceyhan, S., Waters, P.J., Jakobs, C., Clayton, P.T., Struys, E.A. (2012). Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. Journal of Inherited Metabolic Disease. DOI
• Alfadhel, M., Sirrs, S., Waters, P.J., Szeitz, A., Struys, E., Coulter-Mackie, M., Stockler-Ipsiroglu, S. (2012). Variability of phenotype in two sisters with pyridoxine dependent epilepsy. Canadian Journal of Neurological Sciences. DOI
• Mattman, A., O'Riley, M., Waters, P.J., Sinclair, G., Mezei, M.M., Clark, L., Hendson, G., Vallance, H., Sirrs, S. (2011). Diagnosis and management of patients with mitochondrial disease. British Columbia Medical Journal.
• van Karnebeek, C.D.M., Waters, P.J., Sargent, M.A., Mezey, M.M., Wong, L.-J., Wang, J., Stöckler-Ipsiroglu, S. (2011). Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation. Developmental Medicine and Child Neurology. DOI
• Horvath, G.A., Selby, K., Poskitt, K., Hyland, K., Waters, P.J., Coulter-Mackie, M., Stockler-Ipsiroglu, S.G. (2011). Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin. Cephalalgia. DOI
• Alfadhel, M., Lillquist, Y.P., Waters, P.J., Sinclair, G., Struys, E., Mcfadden, D., Hendson, G., Hyams, L., Shoffner, J., Vallance, H.D. (2011). Infantile cardioencephalopathy due to a COX15 gene defect: Report and review. American Journal of Medical Genetics, Part A. DOI
• Schrader, K.A., Heravi-Moussavi, A., Waters, P.J., Senz, J., Whelan, J., Ha, G., Eydoux, P., Nielsen, T., Gallagher, B., Oloumi, A., Boyd, N., Fernandez, B.A., Young, T.-L., Jones, S.J.M., Hirst, M., Shah, S.P., Marra, M.A., Green, J., Huntsman, D.G. (2011). Using next-generation sequencing for the diagnosis of rare disorders: A family with retinitis pigmentosa and skeletal abnormalities. Journal of Pathology. DOI
• McLarren, K.W., Severson, T.M., Du Souich, C., Stockton, D.W., Kratz, L.E., Cunningham, D., Hendson, G., Morin, R.D., Wu, D., Paul, J.E., An, J., Nelson, T.N., Chou, A., Debarber, A.E., Merkens, L.S., Michaud, J.L., Waters, P.J., Yin, J., McGillivray, B., ... Boerkoel, C.F. (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics. DOI
• Gallagher, R.C., Van Hove, J.L.K., Scharer, G., Hyland, K., Plecko, B., Waters, P.J., Mercimek-Mahmutoglu, S., Stockler-Ipsiroglu, S., Salomons, G.S., Rosenberg, E.H., Struys, E.A., Jakobs, C. (2009). Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Annals of Neurology. DOI
• Lehman, A.M., Schultz, K.R., Poskitt, K., Bjornson, B., Keyes, R., Waters, P.J., Clarke, L.A., Everett, R., McConnell, D., Stockler, S. (2009). Intracranial calcification after cord blood neonatal transplantation for Krabbe disease. Neuropediatrics. DOI
• Rosenberg, E.H., Struys, E.A., Hyland, K., Plecko, B., Waters, P.J., Mercimek-Mahmutoglu, S., Stockler-Ipsiroglu, S., Gallagher, R.C., Scharer, G., Van Hove, J.L.K., Jakobs, C., Salomons, G.S. (2009). Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification. Molecular Genetics and Metabolism. DOI
• Mercimek-Mahmutoglu, S., Reilly, C., Human, D., Waters, P.J., Stoeckler-Ipsiroglu, S. (2009). Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler. World Journal of Pediatrics. DOI
• Greenberg, C.R., Dilling, L.A., Thompson, G.R., Seargeant, L.E., Haworth, J.C., Phillips, S., Chan, A., Vallance, H.D., Waters, P.J., Sinclair, G., Lillquist, Y., Wanders, R.J.A., Olpin, S.E. (2009). The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Molecular Genetics and Metabolism. DOI
• Wang, J., Brautbar, A., Chan, A.K., Dzwiniel, T., Li, F.-y., Waters, P.J., Graham, B.H., Wong, L.-J. (2009). Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family. Molecular Genetics and Metabolism. DOI
• Horvath, G.A., Stockler-Ipsiroglu, S.G., Salvarinova-Zivkovic, R., Lillquist, Y.P., Connolly, M., Hyland, K., Blau, N., Rupar, T., Waters, P.J. (2008). Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms. Molecular Genetics and Metabolism. DOI
• Wong, L.J., Naviaux, R.K., Brunetti-Pierri, N., Zhang, Q., Schmitt, E.S., Truong, C., Milone, M., Cohen, B.H., Wical, B., Ganesh, J., Basinger, A.A., Burton, B.K., Swoboda, K., Gilbert, D.L., Vanderver, A., Saneto, R.P., Maranda, B., Arnold, G., Abdenur, J.E., ... Copeland, W.C. (2008). Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Human mutation. DOI
• Coulter-Mackie, M.B., Lian, Q., Applegarth, D.A., Toone, J., Waters, P.J., Vallance, H. (2008). Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results. Clinical Biochemistry. DOI
• Horvath, G.A., Davidson, A.G.F., Stockler-Ipsiroglu, S.G., Lillquist, Y.P., Waters, P.J., Olpin, S., Andresen, B.S., Palaty, J., Nelson, J., Vallance, H. (2008). Newborn screening for MCAD deficiency: Experience of the first three years in British Columbia, Canada. Canadian Journal of Public Health. DOI
• Brunetti-Pierri, N., Selby, K., O'Sullivan, M., Hendson, C., Truong, C., Waters, P.J., Wong, L.-J. (2008). Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. Neuropediatrics. DOI
• Andrade, J., Waters, P.J., Singh, R.S., Levin, A., Toh, B.-C., Vallance, H.D., Sirrs, S. (2008). Screening for fabry disease in patients with chronic kidney disease: Limitations of plasma α-galactosidase assay as a screening test. Clinical Journal of the American Society of Nephrology. DOI
• Basheer, S.N., Waters, P.J., Lam, C.W., Acquaviva-Bourdain, C., Hendson, G., Poskitt, K., Hukin, J. (2007). Isolated sulfite oxidase deficiency in the newborn: Lactic acidaemia and leukoencephalopathy. Neuropediatrics. DOI
• Hueber, P.-A., Waters, P., Clarke, P., Eccles, M., Goodyer, P. (2006). PAX2 inactivation enhances cisplatin-induced apoptosis in renal carcinoma cells. Kidney International. DOI
• Demos, M.K., Waters, P.J., Vallance, H.D., Lillquist, Y., Makhseed, N., Hyland, K., Blau, N., Connolly, M.B. (2005). 6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Annals of Neurology. DOI
• Waters, P.J., Khashu, M., Lillquist, Y., Senger, C., Mattman, A., Demos, M., Setchell, K., Rupar, A., Scott, P., Blau, N., Vallance, H.D. (2005). Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?. Molecular Genetics and Metabolism. DOI
• Makhseed, N., Vallance, H.D., Potter, M., Waters, P.J., Wong, L.T.K., Lillquist, Y., Pasquali, M., Amat di San Filippo, C., Longo, N. (2004). Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. Journal of Inherited Metabolic Disease. DOI
• Waters, P.J. (2003). How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: Insights from in vitro expression. Human Mutation. DOI
• Scriver, C.R., Hurtubise, M., Konecki, D., Phommarinh, M., Prevost, L., Erlandsen, H., Stevens, R., Waters, P.J., Ryan, S., McDonald, D., Sarkissian, C. (2003). PAHdb 2003: What a locus-specific knowledgebase can do. Human Mutation. DOI
• Waters, P.J. (2001). Degradation of mutant proteins, underlying "loss of functio" phenotypes plays a major role in genetic disease. Current Issues in Molecular Biology.
• Waters, P.J., Parniak, M.A., Akerman, B.R., Scriver, C.R. (2001). Erratum: Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype (Molecular Genetics and Metabolism (2000) 69:2 (101-110)). Molecular Genetics and Metabolism. DOI
• Waters, P.J., Scriver, C.R., Parniak, M.A. (2001). Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: Evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia. Molecular Genetics and Metabolism. DOI
• Waters, P.J., Parniak, M.A., Akerman, B.R., Scriver, C.R. (2000). Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. Molecular Genetics and Metabolism. DOI
• Scriver, C.R., Waters, P.J., Sarkissian, C., Ryan, S., Prevost, L., Côté, D., Novak, J., Teebi, S., Nowacki, P.M. (2000). PAHdb: A locus-specific knowledgebase. Human Mutation. DOI
• Scriver, C.R., Waters, P.J. (1999). Monogenic traits are not simple: Lessons from phenylketonuria. Trends in Genetics. DOI
• Waters, P.J., Parniak, M.A., Hewson, A.S., Scriver, C.R. (1998). Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH). Human Mutation. DOI
• Waters, P.J., Scriver, C.R., Parniak, M.A. (1998). Degradation rates differ between mutant and wild-type forms of phenylalanine hydroxylase expressed in vitro. Biochemical Society Transactions. DOI
• Waters, P.J., Parniak, M.A., Nowacki, P., Scriver, C.R. (1998). In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function. Human Mutation. DOI
• Carter, K.C., Byck, S., Waters, P.J., Richards, B., Nowacki, P.M., Laframboise, R., Lambert, M., Treacy, E., Scriver, C.R. (1998). Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: The Quebec experience. European Journal of Human Genetics. DOI
• Treacy, E.P., Delente, J.J., Elkas, G., Carter, K., Lambert, M., Waters, P.J., Scriver, C.R. (1997). Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: A pilot study. Pediatric Research. DOI
• Kayaalp, E., Treacy, E., Waters, P.J., Byck, S., Nowacki, P., Scriver, C.R. (1997). Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations. American Journal of Human Genetics. DOI
• Waters, P.J., Flynn, M.D., Pennock, C.A., Corrall, R.J.M., Greenwood, R.J., Eisenthal, R. (1995). Decreased Sialidase Activity in Mononuclear Leucocytes of Type 1 Diabetic Subjects: Relationship to Diabetic Complications and Glycaemic Control. Diabetic Medicine. DOI
• Waters, P.J., Flynn, M.D., Pennock, C.A. (1994). Association between serum cholesterol and leucocyte lysosomal function. Annals of Clinical Biochemistry. DOI
• Waters, P.J., Corfield, A.P., Eisenthal, R., Pennock, C.A. (1994). Freeze-stable sialidase activity in human leucocytes: Substrate specificity, inhibitor susceptibility, detergent requirements and subcellular localization. Biochemical Journal. DOI
• Waters, P.J., Flynn, M.D., Corrall, R.J.M., Pennock, C.A. (1992). Increases in plasma lysosomal enzymes in Type 1 (insulin-dependent) diabetes mellitus: relationship to diabetic complications and glycaemic control. Diabetologia. DOI
• Waters, P.J., Lewry, E., Pennock, C.A. (1992). Measurement of sialic acid in serum and urine: Clinical applications and limitations. Annals of Clinical Biochemistry. DOI
• Flynn, M.D., Corrall, R.J.M., Waters, P.J., Pennock, C.A. (1991). Sialic acid and cardiovascular mortality [18]. British Medical Journal.

Livres

• Cyr, D., Boutin, M., Maranda, B., Waters, P.J. (2024). Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1. Jimd Reports. DOI
• Almuhsen, N., Guay, S.-P., Lefrancois, M., Gauvin, C., Al Bahlani, A.L.Q., Ahmed, N., Saint-Martin, C., Gagnon, T., Waters, P., Braverman, N., Buhas, D. (2021). Clinical utility of methionine restriction in adenosine kinase deficiency. JIMD Reports. DOI

Chapitres de livre

• Kitzler, T.M., Gupta, I.R., Osterman, B., Poulin, C., Trakadis, Y., Waters, P.J., Buhas, D.C. (2019). Acute and chronic management in an atypical case of ethylmalonic encephalopathy. JIMD Reports. DOI
• Waters, P.J., Kitzler, T.M., Feigenbaum, A., Geraghty, M.T., Al-Dirbashi, O., Bherer, P., Auray-Blais, C., Gravel, S., McIntosh, N., Siriwardena, K., Trakadis, Y., Brunel-Guitton, C., Al-Hertani, W. (2018). Glutaric aciduria type 3: Three unrelated canadian cases, with different routes of ascertainment. JIMD Reports. DOI
• Hannah-Shmouni, F., Sirrs, S., Mezei, M.M., Waters, P.J., Mattman, A. (2014). Increased prevalence of hypertension in young adults with high heteroplasmy levels of the MELAS m.3243A>G mutation. Jimd Reports. DOI

Articles de conférence

• Waters, P.J., Parniak, M.A., Akerman, B.R., Jones, A.O., Scriver, C.R. (1999). Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria. Journal of Inherited Metabolic Disease. DOI
• Waters, P.J., Stacy Hewson, A., Scrtver, C.R., Treacy, E.P., Martinez, A., Knappskog, P.M., Parniak, M.A. (1997). Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme. Biochemical Society Transactions. DOI
• Waters, P.J., Flynn, M.D., Pennock, C.A., Corrall, R.J.M., Eisenthal, R. (1993). Diabetes-related changes in sialic acid content of leucocytes: An assay-dependent artefact ?. Biochemical Society Transactions. DOI
• Waters, P.J., Lewry, E.M., Brimple, A.P., Pennock, C.A. (1992). Factors affecting the assay of urinary free and bound sialic acid. Biochemical Society Transactions. DOI

Autres contributions

Divers

• Agudelo, D., Carter, S., Velimirovic, M., Duringer, A., Levesque, S., Rivest, J.-F., Loehr, J., Mouchiroud, M., Cyr, D., Waters, P.J., Laplante, M., Moineau, S., Goulet, A., Doyon, Y. (2018). Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9. Biorxiv.