Publications by authors named "Jasinge Eresha"

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Navigating the Challenge: Selecting the Optimal Assay for Serum Albumin Measurement.
Mohamed Thowfeek Zeenath Thaneefa, Sajani Lakshika Hemarathne, Thayani Arooran, Nuwani Balasooriya, Eresha Jasinge

EJIFCC· October 2025

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Association of fatty liver with serum gamma-glutamyltransferase and uric acid in obese children in a tertiary care centre.
Vidanapathirana Dinesha Maduri, Jasinge Eresha, Samaranayake Dulani, Wickramasinghe Pujitha

BMC Pediatr· February 2025

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Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.
Shifaniya Banu Mohideen, Pitipanage Mihika Samindi Fernando, Christian Beetz, Sabine Schroder, Catarina Pereira, Eresha Jasinge

Lab Med· January 2025

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Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.
Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Eresha Jasinge

JIMD Rep· January 2025

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Homozygous LPL and GPIHBP1 variants causing familial chylomicronaemia syndrome in Sri Lankan children.
Fasilaas Kiyamudeen, Madubashini Rajapaksha, Navoda Atapattu, Srinika D Kularatne, Sabine Schröder, Eresha Jasinge

Pathology· October 2024

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Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.
Eresha Jasinge, Mihika Fernando, Neluwa-Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Nalin Gamaathige

Adv Lab Med· June 2024

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[Not Available].
Eresha Jasinge, Mihika Fernando, Neluwa-Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Nalin Gamaathige

Adv Lab Med· June 2024

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Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan Child.
P Mihika S Fernando, R A Saraji R Gunasekara, Sabine Schröder, Christian Beetz, Anura Jayawardena, Eresha A Jasinge

Lab Med· September 2023

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Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka.
Nadeesha Samarasinghe, Dinithi Mahaliyanage, Sumadee De Silva, Eresha Jasinge, Nimal Punyasiri

J Genet Eng Biotechnol· December 2022

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Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.
Siddiqa Ozaal, Subashinie Jayasena, Surani Jayakody, Sabine Schröder, Anura Jayawardana, Eresha Jasinge

Child Neurol Open· November 2022

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Eresha Jasinge

Eur J Hum Genet· September 2022

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Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.
Eresha Jasinge, Mihika Fernando, Neluwa-Liyanage R Indika, Roberta Trunzo, Sabine Schröder

Lab Med· May 2022

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Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.
Eresha Jasinge, Mihika Fernando, Neluwa-Liyanage Ruwan Indika, Roberta Trunzo, Sabine Schröder

Lab Med· May 2022

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Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection.
Mohamed Thowfeek Zeenath Thaneefa, Givani Amarakoon, Devan Mendis, Eresha Jasinge, Amanda J Hooper

Clin Chim Acta· April 2022

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Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.
Udara Dilrukshi Senarathne, Eresha Jasinge, Sarojini Viknarajah Mohan, Samantha Waidyanatha

BMJ Case Rep· March 2022

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A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heterozygous Gene Variant of Carbomoyl Phosphatase Synthetase Deficiency.
Imalke Kankananarachchi, Eresha Jasinge, Gemunu Hewawitharana

Case Rep Neurol Med· December 2021

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A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Eresha Jasinge

BMC Endocr Disord· October 2021

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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.
Visvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, Eresha Jasinge, Kumudu Weerasekara

J Med Case Rep· September 2021

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Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report.
Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe

BMC Pediatr· July 2020

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Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature.
Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Eresha Jasinge, Roshitha Waduge, Narangoda Liyanage Ajantha Shyamali

Case Rep Med· May 2020

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A Novel Mutation in Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.
Thivanka Vishwani Manawadu, Eresha Jasinge, Meranthi Fernando, Pradeep Gamage, Anusha Varuni Gunarathne

Indian J Clin Biochem· April 2020

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GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.
Kavinda Chandimal Dayasiri, Nayani Suraweera, Deepal Nawarathne, U E Senanayake, B K T P Dayanath, Eresha Jasinge

BMC Pediatr· June 2019

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Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.
Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Nambage Dona Priyani Dhammika Chandrasiri, Eresha Jasinge

BMC Med Genet· May 2019

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Evaluation of biochemical and haematological changes in dengue fever and dengue hemorrhagic fever in Sri Lankan children: a prospective follow up study.
Grace Angeline Malarnangai Kularatnam, Eresha Jasinge, Sunethra Gunasena, Dulani Samaranayake, Manouri Prasanta Senanayake

BMC Pediatr· April 2019

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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
Dinesha Maduri Vidanapathirana, Subashinie Jayasena, Eresha Jasinge, Blanka Stiburkova

BMC Pediatr· June 2018

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