Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report

by Niranjalee Samanthika Egodawaththe, Sumudu Nimali Seneviratne, Suvini Gunasekara, Sathika Manori Amarasekara, Kumudu Weerasekara
Published 2020-09-01

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

by Visvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, Eresha Jasinge, Kumudu Weerasekara, Lia Abbasi Moheb
Published 2021-09-01

Severe congenital neutropaenia with ELANE mutation: a case report

by Tharindi Suriapperuma, Nura Hewage, Charith Udagedara, Nilanka Thennakoon, Nipunika Senadheera, Chandima Thewarapperuma, Kumudu Weerasekara
Published 2020-12-01

GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case repor...

by Kavinda Chandimal Dayasiri, Nayani Suraweera, Deepal Nawarathne, U. E. Senanayake, B. K. T. P. Dayanath, Eresha Jasinge, Kumudu Weerasekara
Published 2019-06-01