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Murray Potter

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Articles 24
Citations 364
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Recent Articles
1.
Iverson R, Taljaard M, Geraghty M, Pugliese M, Tingley K, Coyle D, et al.
BMC Pediatr . 2024 Jan; 24(1):37. PMID: 38216926
Background: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase...
2.
Ivica J, Adam F, Wortel L, Kalika T, Pelly H, Gauthier J, et al.
Clin Biochem . 2023 Dec; 123:110698. PMID: 38048898
Introduction: Acylcarnitines are typically analyzed using either a flow injection analysis (FIA) method or liquid chromatography-mass spectrometry (LC-MS/MS) methods. The FIA method is a fast, efficient method, however it does...
3.
Chow A, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, et al.
BMJ Open . 2022 Feb; 12(2):e055664. PMID: 35193919
Introduction: Children with inherited metabolic diseases (IMDs) often have complex and intensive healthcare needs and their families face challenges in receiving high-quality, family centred health services. Improvement in care requires...
4.
Zhao Y, Lawrence K, Minor M, Gedye K, Wang B, Pomroy W, et al.
J Parasitol . 2021 Sep; 107(5):710-716. PMID: 34525205
This study aimed to investigate whether the infection intensity of Theileria orientalis Ikeda type organisms within Haemaphysalis longicornis larvae and nymph stages fluctuated over 6 mo after feeding as larvae...
5.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, et al.
Pediatrics . 2021 Jul; 148(2). PMID: 34266901
Background: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. Our goal was...
6.
Ivica J, Gauthier J, Power P, Lamy A, Potter M
Clin Biochem . 2020 Nov; 87:74-78. PMID: 33188769
Background: Tranexamic acid is a drug used during open cardiac surgery to prevent blood loss. The blood levels of 10-100 µg/mL are reported to be in the therapeutic range and...
7.
Tingley K, Lamoureux M, Pugliese M, Geraghty M, Kronick J, Potter B, et al.
Orphanet J Rare Dis . 2020 Apr; 15(1):89. PMID: 32276663
Background: The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop...
8.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, et al.
Orphanet J Rare Dis . 2020 Jan; 15(1):12. PMID: 31937333
Background: Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....
9.
Wild J, Shanmuganathan M, Hayashi M, Potter M, Britz-McKibbin P
Analyst . 2019 Oct; 144(22):6595-6608. PMID: 31608347
Management of phenylketonuria (PKU) requires lifelong restriction of phenylalanine (Phe) intake using specialized medical foods to prevent neurocognitive impairment in affected patients. However, dietary adherence is challenging to maintain while...
10.
Dyment D, Prasad A, Boycott K, Ediae G, Hartley T, Hassan A, et al.
Can J Neurol Sci . 2019 Oct; 47(1):61-68. PMID: 31587668
Background: Epilepsy is a common neurological condition that shows a marked genetic predisposition. The advent of next-generation sequencing (NGS) has transformed clinical genetic testing by allowing the rapid screen for...