Hasil Pencarian - Eresha Jasinge

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  1. 1
    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

    A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heteroz... oleh Imalke Kankananarachchi, Eresha Jasinge, Gemunu Hewawitharana

    Diterbitkan 2021-01-01
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  2. 2
    Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

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

    Diterbitkan 2020-07-01
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  3. 3
    A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

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

    Diterbitkan 2018-06-01
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  4. 4
    Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka

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

    Diterbitkan 2022-12-01
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  5. 5
    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

    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 oleh Visvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, Eresha Jasinge, Kumudu Weerasekara, Lia Abbasi Moheb

    Diterbitkan 2021-09-01
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  6. 6
    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 rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report oleh Asanka Rathnasiri, Udara Senarathne, Visvalingam Arunath, Thabitha Hoole, Ishara Kumarasiri, Oshanie Muthukumarana, Eresha Jasinge, Sachith Mettananda

    Diterbitkan 2021-10-01
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  7. 7
    Evaluation of biochemical and haematological changes in dengue fever and dengue hemorrhagic fever in Sri Lankan children: a prospective follow up study

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

    Diterbitkan 2019-04-01
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  8. 8
    Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

    Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants oleh Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs

    Diterbitkan 2019-12-01
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  9. 9
    GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case report

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

    Diterbitkan 2019-06-01
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  10. 10
    Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature

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

    Diterbitkan 2020-01-01
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  11. 11
    Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

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

    Diterbitkan 2019-05-01
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  12. 12
    Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

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

    Diterbitkan 2017-09-01
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  13. 13
    Correction to: Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

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

    Diterbitkan 2017-10-01
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  14. 14
    Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

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

    Diterbitkan 2017-09-01
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  15. 15
    Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis

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

    Diterbitkan 2017-06-01
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