A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heteroz...

by Imalke Kankananarachchi, Eresha Jasinge, Gemunu Hewawitharana
Published 2021-01-01

Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

by Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe
Published 2020-07-01

A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

by Dinesha Maduri Vidanapathirana, Subashinie Jayasena, Eresha Jasinge, Blanka Stiburkova
Published 2018-06-01

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 the literature

by Visvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, Eresha Jasinge, Kumudu Weerasekara, Lia Abbasi Moheb
Published 2021-09-01

Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka

by Nadeesha Samarasinghe, Dinithi Mahaliyanage, Sumadee De Silva, Eresha Jasinge, Nimal Punyasiri, H. W. Dilanthi
Published 2022-12-01

Evaluation of biochemical and haematological changes in dengue fever and dengue hemorrhagic fever in Sri Lankan children: a prospective follow up study

by Grace Angeline Malarnangai Kularatnam, Eresha Jasinge, Sunethra Gunasena, Dulani Samaranayake, Manouri Prasanta Senanayake, Vithanage Pujitha Wickramasinghe
Published 2019-04-01

A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report

by Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettananda
Published 2021-10-01

Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

by Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs
Published 2019-12-01

GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case repor...

by Kavinda Chandimal Dayasiri, Nayani Suraweera, Deepal Nawarathne, U. E. Senanayake, B. K. T. P. Dayanath, Eresha Jasinge, Kumudu Weerasekara
Published 2019-06-01

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease

by Siddiqa Ozaal MBBS, Subashinie Jayasena MBBS, Surani Jayakody MBBS, Sabine Schröder MSc, Anura Jayawardana MD, Eresha Jasinge MD
Published 2022-11-01

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature

by Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Eresha Jasinge, Roshitha Waduge, Narangoda Liyanage Ajantha Shyamali, Poruthotage Pradeep Rasika Perera
Published 2020-01-01

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

by Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Nambage Dona Priyani Dhammika Chandrasiri, Eresha Jasinge
Published 2019-05-01

Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

by Grace Angeline Malarnangai Kularatnam, Dilanthi Warawitage, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Nalika de Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols
Published 2017-09-01

Correction to: Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

by Grace Angeline Malarnangai Kularatnam, Hewa Dilanthi Warawitage, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Ginige Nalika Nirmalene de Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols
Published 2017-10-01

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

by Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova
Published 2017-09-01

Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis

by Dinesha Maduri Vidanapathirana MBBS, Dip Chem Path, Thushara Rodrigo MBBS, DCH, Samantha Waidyanatha MBBS, MD, MRCP(UK), Eresha Jasinge MBBS, Dip Chem Path, MD, Amanda J. Hooper BSc(Hons), PhD, John R. Burnett MBChB, MD, PhD, FRCPA
Published 2017-06-01