Many pitfalls in diagnosis of acute intermittent porphyria: a case report NLR Indika, T Kesavan, HW Dilanthi, K Jayasena, N Chandrasiri, ... BMC Research Notes 11, 1-5, 2018 | 16 | 2018 |
Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka NLR Indika, DM Vidanapathirana, HW Dilanthi, GAM Kularatnam, ... BMC Medical Genetics 20, 1-7, 2019 | 15 | 2019 |
Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report GAM Kularatnam, D Warawitage, DM Vidanapathirana, S Jayasena, ... BMC research notes 10, 1-5, 2017 | 14 | 2017 |
Lipin‐1 deficiency‐associated recurrent rhabdomyolysis and exercise‐induced myalgia persisting into adulthood: A case report and review of literature NLR Indika, DM Vidanapathirana, E Jasinge, R Waduge, NLA Shyamali, ... Case Reports in Medicine 2020 (1), 7904190, 2020 | 12 | 2020 |
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series E Jasinge, GAM Kularatnam, HW Dilanthi, DM Vidanapathirana, ... BMC research notes 10, 1-6, 2017 | 12 | 2017 |
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia DM Vidanapathirana, S Jayasena, E Jasinge, B Stiburkova BMC pediatrics 18, 1-5, 2018 | 11 | 2018 |
Association of serum uric acid and gamma-glutamyltransferase with obesity related metabolic derangements in a cohort of children with obesity in Sri Lanka DM Vidanapathirana, EA Jasinge, D Samaranayake, P Wickramasinghe Ceylon Medical Journal 64 (4), 2019 | 5 | 2019 |
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis DM Vidanapathirana, T Rodrigo, S Waidyanatha, E Jasinge, AJ Hooper, ... Global Pediatric Health 4, 2333794X17715839, 2017 | 3 | 2017 |
Identification of a novel MTTP splice variant c. 394-2A> C in an infant with abetalipoproteinemia DM Vidanapathirana, E Jasinge, S Waidyanatha, AJ Hooper, JR Burnett J Rare Dis Res Treat 4 (2), 25-27, 2019 | 2 | 2019 |
Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child E Jasinge, M Fernando, NL Ruwan Indika, R Trunzo, S Schröder, ... Laboratory medicine 53 (3), e62-e62, 2022 | 1 | 2022 |
A case of molybdenum cofactor deficiency DM Vidanapathirana, S Jayasena, EA Jasinge, P Ratnayake, L Fairbanks Sri Lanka Journal of Child Health 46 (3), 273-274, 2017 | 1 | 2017 |
Molybdenum Cofactor Deficiency (MoCD): Complementation Groups A–C DM Vidanapathirana, E Jasinge, AL Misko Genetic Syndromes: A Comprehensive Reference Guide, 1-6, 2023 | | 2023 |
Clinical and demographic characteristics of organic acidaemias in children in a tertiary care hospital in Sri Lanka: A 4-year experience in a single centre DM Vidanapathirana, PMS Fernando, K Jayasena, N Chandrasiri, ... Sri Lanka Journal of Child Health 52 (3), 307-313, 2023 | | 2023 |
Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA NL Indika, R Indika, A Rolfs, C Beetz, S Schröder, C Pereira, V Volha, ... Journal of Nepal Paediatric Society 42 (2), 80-82, 2022 | | 2022 |
Case Report Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature NLR Indika, DM Vidanapathirana, E Jasinge, R Waduge, NLA Shyamali, ... | | 2020 |
Lipin-1 deficiency associated recurrent rhabdomyolysis and exercise-induced myalgia persisting into adulthood; A case report and a short review of literature DM Vidanapathirana, E Jasinge, R Waduge, NLA Shyamali, PPR Perera | | |