E. Jasinge

发表

Assessment of the validity of protein - osmolality ratio in a randomly collected urine specimen, in the estimation of proteinuria in children

V. Wickramasinghe, H. W. Dilanthi, Grace Angeline Malarnangai Kularatnam, 2016 .

Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia

J. Burnett, A. Hooper, E. Jasinge, 2019, Journal of Rare Diseases Research & Treatment.

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

K. Pindolia, B. Wolf, J. Wanigasinghe, 2015, Molecular genetics and metabolism reports.

Neonatal Severe Hyperparathyroidism: A Fatal Case

M. Levine, E. Jasinge, Gawri Abeynayake, 2018 .

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

S. Nampoothiri, A. Bavdekar, Varun Khanna, 2014, Journal of Human Genetics.

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

U. Senarathne, E. Jasinge, S. Waidyanatha, 2022, BMJ Case Reports.

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

A. Bertoli-Avella, L. Selim, H. Tomoum, 2022, European Journal of Human Genetics.

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

H. W. Dilanthi, Grace Angeline Malarnangai Kularatnam, E. Jasinge, 2019, BMC Medical Genetics.

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

C. Pereira, K. Dayasiri, V. Thadchanamoorthy, 2021, BMC Medical Genomics.

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, E. Jasinge, B. Dayanath, 2019, BMC Pediatrics.

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

S. Gunasena, M. Senanayake, V. Wickramasinghe, 2019, BMC Pediatrics.

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

R. Desnick, D. Doheny, W. Arachchi, 2018, BMC Research Notes.

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

B. Stibůrková, E. Jasinge, D. M. Vidanapathirana, 2018, BMC Pediatrics.

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

Nadeesha Samarasinghe, N. Punyasiri, H. W. Dilanthi, 2022, Journal, genetic engineering & biotechnology.

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

E. Jasinge, I. Kankananarachchi, G. Hewawitharana, 2021, Case Reports in Neurological Medicine.

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

L. Fairbanks, P. Ratnayake, B. Stibůrková, 2017, BMC Research Notes.

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

J. Burnett, A. Hooper, E. Jasinge, 2017, Global pediatric health.

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

E. Jasinge, Siddiqa Ozaal, Sabine Schröder, 2022, Child neurology open.

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

R. Waduge, P. Perera, E. Jasinge, 2020, Case reports in medicine.

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

J. Wanigasinghe, E. Jasinge, H. Abeysekera, 2020, BMC Pediatrics.

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

C. Pereira, K. Dayasiri, V. Thadchanamoorthy, 2021, BMC medical genomics.

Many pitfalls in diagnosis of acute intermittent porphyria: a case report

R. Desnick, D. Doheny, W. Arachchi, 2018, BMC Research Notes.

Adult-onset seizures as the initial presentation of acute intermittent porphyria

R. Kalupahana, E. Jasinge, A. Fernando, 2023, Journal of the Ceylon College of Physicians.

A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis

E. Jasinge, Meranthi Fernando, P. Gamage, 2019, Indian Journal of Clinical Biochemistry.

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

S. Nampoothiri, A. Bavdekar, Varun Khanna, 2014, Journal of Human Genetics.

Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene

F. Recker, M. Ludwig, Grace Angeline Malarnangai Kularatnam, 2017 .

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency

P. Ratnayake, E. Jasinge, N. Indika, 2024, Advances in laboratory medicine.