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

por Vidanapathirana, Dinesha Maduri, Jayasena, Subashinie, Jasinge, Eresha, Stiburkova, Blanka
Publicado 2018

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

por Vidanapathirana, Dinesha Maduri, Rodrigo, Thushara, Waidyanatha, Samantha, Jasinge, Eresha, Hooper, Amanda J., Burnett, John R.
Publicado 2017

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

por Indika, Neluwa Liyanage Ruwan, Vidanapathirana, Dinesha Maduri, Jasinge, Eresha, Waduge, Roshitha, Shyamali, Narangoda Liyanage Ajantha, Perera, Poruthotage Pradeep Rasika
Publicado 2020

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

por Indika, Neluwa Liyanage Ruwan, Vidanapathirana, Dinesha Maduri, Dilanthi, Hewa Warawitage, Kularatnam, Grace Angeline Malarnangai, Chandrasiri, Nambage Dona Priyani Dhammika, Jasinge, Eresha
Publicado 2019

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

por Kularatnam, Grace Angeline Malarnangai, Dilanthi, Hewa Warawitage, Vidanapathirana, Dinesha Maduri, Jayasena, Subashini, Jasinge, Eresha, Silva, Ginige Nalika Nirmalenede, Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva, Wickramasinghe, Pujitha, Devgun, Manjit Singh, Barbu, Veronique, Lascols, Olivier
Publicado 2017

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

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

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

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