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

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First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children von Senanayake, Danika Nadeen, Jasinge, Eresha. A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

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Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84] von Senanayake, Danika Nadeen, Jasinge, Eresha A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry

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Association of Serum Uric acid and Gamma-glutamyltransferase with Obesity Related Metabolic Derangements in a Cohort of Children with Obesity in Sri Lanka von Vidanapathirana, Dinesha M, Samaranayake, Dulani, Wickramasinghe, Pujitha

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

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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 Heteroz... von Kankananarachchi, Imalke, Jasinge, Eresha, Hewawitharana, Gemunu

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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 von Kularatnam, Grace Angeline Malarnangai, Jasinge, Eresha, Gunasena, Sunethra, Samaranayake, Dulani, Senanayake, Manouri Prasanta, Wickramasinghe, Vithanage Pujitha

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

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

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A case of late infantile neuronal ceroid lipofuscinosis type 5 von Vithanage, Nimantha Dhananjaya, Yapa, Wijitha Kumari, Jasinge, Eresha Jasinge, Ratnayake, Pyara, Mihirani, Lakmali Kandegedara, Sumanasekara, Nilupuli, Anandarajah, Christopher Luckshanth

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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 von Rathnasiri, Asanka, Senarathne, Udara, Arunath, Visvalingam, Hoole, Thabitha, Kumarasiri, Ishara, Muthukumarana, Oshanie, Jasinge, Eresha, Mettananda, Sachith

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

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

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

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A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis von Manawadu, Thivanka Vishwani, Jasinge, Eresha, Fernando, Meranthi, Gamage, Pradeep, Gunarathne, Anusha Varuni

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

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

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Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease von Ankleshwaria, Chitra, Mistri, Mehul, Bavdekar, Ashish, Muranjan, Mamta, Dave, Usha, Tamhankar, Parag, Khanna, Varun, Jasinge, Eresha, Nampoothiri, Sheela, Edayankara Kadangot, Suresh, Sheth, Frenny, Gupta, Sarita, Sheth, Jayesh

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Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency von Jasinge, Eresha, Fernando, Mihika, Indika, Neluwa-Liyanage Ruwan, Ratnayake, Pyara Dilani, Gamaathige, Nalin, Ratnaranjith, Ratnanathan, Schroeder, Sabine, Jones, Patricia, Volha, Skrahina, Jayasena, Subhashinie, Gunaratna, Anusha Varuni, Bandara Ekanayake, Asitha Niroshana, Rolfs, Arndt

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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 repor... von Dayasiri, Kavinda Chandimal, Suraweera, Nayani, Nawarathne, Deepal, Senanayake, U E, Dayanath, B K T P, Jasinge, Eresha, Weerasekara, Kumudu

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