Evaluation of biochemical and haematological changes in dengue fever and dengue hemorrhagic fever in Sri Lankan children: a prospective follow up study GAM Kularatnam, E Jasinge, S Gunasena, D Samaranayake, ... BMC pediatrics 19, 1-9, 2019 | 68 | 2019 |
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease C Ankleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, ... Journal of human genetics 59 (4), 223-228, 2014 | 26 | 2014 |
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients LS Almeida, C Pereira, R Aanicai, S Schröder, T Bochinski, A Kaune, ... European Journal of Human Genetics 30 (9), 1029-1035, 2022 | 24 | 2022 |
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 | 18 | 2019 |
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 | 18 | 2018 |
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 | 15 | 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 |
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children DN Senanayake, EA Jasinge, K Pindolia, J Wanigasinghe, K Monaghan, ... Molecular Genetics and Metabolism Reports 2, 81-84, 2015 | 12 | 2015 |
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 |
GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child–a case report KC Dayasiri, N Suraweera, D Nawarathne, UE Senanayake, B Dayanath, ... BMC pediatrics 19, 1-5, 2019 | 8 | 2019 |
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease C Ankleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, ... J Hum Genet 60 (5), 285, 2015 | 8 | 2015 |
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 | 6 | 2019 |
A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of … V Arunath, MS Liyanarachchi, S Gajealan, E Jasinge, K Weerasekara, ... Journal of Medical Case Reports 15, 1-4, 2021 | 5 | 2021 |
A Case of Carbamazepine‐Induced Aggravation of Self‐Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate‐Induced Hyperammonemic Encephalopathy in a Child with … I Kankananarachchi, E Jasinge, G Hewawitharana Case Reports in Neurological Medicine 2021 (1), 2362679, 2021 | 5 | 2021 |
Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis V Thadchanamoorthy, MTR Jayatunga, K Dayasiri, E Jasinge, ... BMC Medical Genomics 14, 1-6, 2021 | 4 | 2021 |
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 | 4 | 2017 |
A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report A Rathnasiri, U Senarathne, V Arunath, T Hoole, I Kumarasiri, ... BMC Endocrine Disorders 21, 1-5, 2021 | 3 | 2021 |
Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report H Hewavitharana, E Jasinge, H Abeysekera, J Wanigasinghe BMC pediatrics 20 (1), 338, 2020 | 3 | 2020 |
Intermittent episodes of metabolic ketoacidosis in a seven-year-old boy: Mitochondrial Beta-ketothiolase deficiency WAG Weerasinghe, E Jasinge, JC Sarathchandra, RAK Chinthaka Galle Medical Journal 18 (1), 2013 | 3 | 2013 |