日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Association of fatty liver with serum gamma-glutamyltransferase and uric acid in obese children in a tertiary care centre

三级医疗中心肥胖儿童脂肪肝与血清γ-谷氨酰转移酶和尿酸水平的相关性

Maduri, Vidanapathirana Dinesha; Eresha, Jasinge; Dulani, Samaranayake; Pujitha, Wickramasinghe

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria

斯里兰卡同型半胱氨酸尿症患者队列的基因型谱

Dilanthi, Hewa Warawitage; Jayasena, Kandana Liyanage Subhashinie; Dhammika, Nambage Dona Priyani; Indika, Neluwa Liyanage Ruwan; De Silva, Matara Mahavidanage Nishani; Kankananarachchi, Imalke; Punchihewa, Pushpa Malkanthi Gardiye; Irugalbandara, Dharma; Schroeder, Sabine; Karunaratne, Kosala; Jasinge, Eresha

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

整合多组学方法作为代谢性疾病诊断的优秀工具:我们的首批3720例患者

Almeida, Ligia S; Pereira, Catarina; Aanicai, Ruxandra; Schröder, Sabine; Bochinski, Tomasz; Kaune, Anett; Urzi, Alice; Spohr, Tania C L S; Viceconte, Nikenza; Oppermann, Sebastian; Alasel, Mohammed; Ebadat, Saeedeh; Iftikhar, Sana; Jasinge, Eresha; Elsayed, Solaf M; Tomoum, Hoda; Marzouk, Iman; Jalan, Anil B; Cerkauskaite, Agne; Cerkauskiene, Rimante; Tkemaladze, Tinatin; Nadeem, Anjum Muhammad; El Din Mahmoud, Iman Gamal; Mossad, Fawzia Amer; Kamel, Mona; Selim, Laila Abdel; Cheema, Huma Arshad; Paknia, Omid; Cozma, Claudia; Juaristi-Manrique, Carlos; Guatibonza-Moreno, Pilar; Böttcher, Tobias; Vogel, Florian; Pinto-Basto, Jorge; Bertoli-Avella, Aida; Bauer, Peter

Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka.

斯里兰卡一组患有同型半胱氨酸尿症的儿童中,CBS 和 MTHFR 基因的特定遗传变异与该疾病的关联性

Samarasinghe Nadeesha, Mahaliyanage Dinithi, De Silva Sumadee, Jasinge Eresha, Punyasiri Nimal, Dilanthi H W

Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment

婴儿期发病的庞贝病症状缺乏特异性,可能导致诊断和治疗延误。

Senarathne, Udara Dilrukshi; Jasinge, Eresha; Viknarajah Mohan, Sarojini; Waidyanatha, Samantha

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease

临床表现和遗传异质性:斯里兰卡婴儿型桑德霍夫病患者的两种新变异

Ozaal, Siddiqa; Jayasena, Subashinie; Jayakody, Surani; Schröder, Sabine; Jayawardana, Anura; Jasinge, Eresha

A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report

杜氏肌营养不良症、先天性肾上腺发育不全和甘油激酶缺乏症罕见共存病例报告(Xp21邻近基因缺失综合征):病例报告

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

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

外显子组测序检测到一例极其罕见的胎儿期发病的家族性噬血细胞性淋巴组织细胞增生症5型,并伴有胎儿水肿。

Thadchanamoorthy, V; Jayatunga, M T R; Dayasiri, Kavinda; Jasinge, E; Jinnah, M L M; Pereira, C; Skrahina, V; Thirukumar, Markandu

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

一例卡马西平诱发的自限性中央颞区棘波癫痫加重,以及丙戊酸诱发的高氨血症性脑病,发生于一名患有杂合子氨甲酰磷酸酶合成酶缺乏症基因变异的儿童

Kankananarachchi, Imalke; Jasinge, Eresha; Hewawitharana, Gemunu

Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

斯里兰卡首例经典型法布里病伴角膜轮状混浊:病例报告

Hewavitharana, Hasani; Jasinge, Eresha; Abeysekera, Hiranya; Wanigasinghe, Jithangi