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

por Egodawaththe, Niranjalee Samanthika, Seneviratne, Sumudu Nimali, Gunasekara, Suvini, Amarasekara, Sathika Manori, Weerasekara, Kumudu
Publicado 2020

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

por Arunath, Visvalingam, Liyanarachchi, Manoj Sanjeewa, Gajealan, Sundararajah, Jasinge, Eresha, Weerasekara, Kumudu, Moheb, Lia Abbasi
Publicado 2021

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

por Dayasiri, Kavinda Chandimal, Suraweera, Nayani, Nawarathne, Deepal, Senanayake, U. E., Dayanath, B. K. T. P., Jasinge, Eresha, Weerasekara, Kumudu
Publicado 2019