Paula J Waters
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Explore the profile of Paula J Waters including associated specialties, affiliations and a list of published articles.
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47
Citations
651
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Recent Articles
1.
Cyr D, Boutin M, Maranda B, Waters P
JIMD Rep
. 2024 Nov;
65(6):433-441.
PMID: 39512438
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl-CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3-HG). Some low excretors...
2.
Ghannoum M, Waters P, Hovda K, Choquette G, Elgstoen K, Nygaard I, et al.
Clin Toxicol (Phila)
. 2024 Sep;
62(11):698-706.
PMID: 39327950
Introduction: To the best of our knowledge, clinically significant endogenous ethylene glycol production has never been reported in humans, very seldom reported in other animals or microorganisms, and then only...
3.
Rivest J, Carter S, Goupil C, Anterieux P, Cyr D, Ung R, et al.
Genetics
. 2024 Aug;
228(2).
PMID: 39178380
Hereditary tyrosinemia type 1 is an autosomal recessive disorder caused by mutations (pathogenic variants) in fumarylacetoacetate hydrolase, an enzyme involved in tyrosine degradation. Its loss results in the accumulation of...
4.
Pekeles H, Berrahmoune S, Dassi C, Cheung A, Gagnon T, Waters P, et al.
EClinicalMedicine
. 2024 Aug;
74:102740.
PMID: 39091670
Background: DNA polymerase gamma (POLG)-related disorders are a group of rare neurodegenerative mitochondrial diseases caused by pathogenic variants in , the gene encoding POLG. Patients may experience a range of...
5.
Boutin M, Maranda B, Waters P
Curr Protoc
. 2024 Jun;
4(6):e1087.
PMID: 38896100
Fabry disease (FD) is a lysosomal storage disorder caused by variants in the GLA gene encoding α-galactosidase A, an enzyme required for catabolism of globotriaosylceramide (Gb). Accumulation of Gb in...
6.
Thuriot F, Gravel E, Hodson K, Ganopolsky J, Rakic B, Waters P, et al.
J Clin Med
. 2021 Sep;
10(17).
PMID: 34501319
Measurement of alpha-glucosidase activity on dried blood spots has been the main method to screen for Pompe disease, but a paradigm shift has been observed in recent years with the...
7.
Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, et al.
Neurol Genet
. 2020 Apr;
6(2):e408.
PMID: 32337335
Objective: To evaluate the diagnostic yield of an 89-gene panel in a large cohort of patients with suspected muscle disorders and to compare the diagnostic yield of gene panel and...
8.
Agudelo D, Carter S, Velimirovic M, Duringer A, Rivest J, Levesque S, et al.
Genome Res
. 2020 Jan;
30(1):107-117.
PMID: 31900288
Targeting definite genomic locations using CRISPR-Cas systems requires a set of enzymes with unique protospacer adjacent motif (PAM) compatibilities. To expand this repertoire, we engineered nucleases, cytosine base editors, and...
9.
Waters P, Lace B, Buhas D, Gravel S, Cyr D, Boucher R, et al.
Mol Genet Genomic Med
. 2019 Oct;
7(12):e1000.
PMID: 31654490
Background: HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is...
10.
Levtova A, Waters P, Buhas D, Levesque S, Auray-Blais C, Clarke J, et al.
J Inherit Metab Dis
. 2019 Feb;
42(1):107-116.
PMID: 30740739
Background: The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints....