Komudi Siriwardena
Overview
Explore the profile of Komudi Siriwardena including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
36
Citations
900
Followers
0
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Related Specialties
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Recent Articles
1.
Chow A, Saad A, Al-Baldawi Z, Iverson R, Skidmore B, Jordan I, et al.
Health Expect
. 2024 Aug;
27(1):e13897.
PMID: 39102737
Introduction: Children with chronic conditions have greater health care needs than the general paediatric population but may not receive care that centres their needs and preferences as identified by their...
2.
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...
3.
Mainali A, Athey T, Bahl S, Hung C, Caluseriu O, Chan A, et al.
Am J Med Genet A
. 2022 Nov;
191(2):510-517.
PMID: 36401557
Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to investigate the diagnostic yield of clinical...
4.
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...
5.
Al Zahrani H, Siriwardena K, Young D, Lehman A, Horvath G, Goez H
Mol Genet Metab
. 2021 Aug;
137(4):420-427.
PMID: 34364746
Purpose: The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present...
6.
Chow A, Pugliese M, Tessier L, Chakraborty P, Iverson R, Coyle D, et al.
Patient
. 2021 Jul;
15(2):171-185.
PMID: 34282509
Background And Objective: Children with inherited metabolic diseases often require complex and highly specialized care. Patient and family-centered care can improve health outcomes that are important to families. This study...
7.
Ediger K, Hicks A, Siriwardena K, Joynt C
BMJ Case Rep
. 2021 Apr;
14(3).
PMID: 33789861
Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a...
8.
Bourque D, Mellin-Sanchez L, Bullivant G, Cruz V, Feigenbaum A, Hewson S, et al.
JIMD Rep
. 2021 Jan;
57(1):102-114.
PMID: 33473346
Biallelic variants in results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters,...
9.
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...
10.
Jain-Ghai S, Joffe A, Bond G, Siriwardena K, Chan A, Yap J, et al.
JIMD Rep
. 2020 Mar;
52(1):43-54.
PMID: 32154059
Background: Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression. Liver transplantation...