关注
Dr Dinesha Maduri Vidanapathirana
Dr Dinesha Maduri Vidanapathirana
Senior Lecturer in Chemical Pathology/Consultant Chemical Pathologist,Faculty of Medical Sciences
在 sjp.ac.lk 的电子邮件经过验证
标题
引用次数
引用次数
年份
Many pitfalls in diagnosis of acute intermittent porphyria: a case report
NLR Indika, T Kesavan, HW Dilanthi, K Jayasena, N Chandrasiri, ...
BMC Research Notes 11, 1-5, 2018
162018
Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka
NLR Indika, DM Vidanapathirana, HW Dilanthi, GAM Kularatnam, ...
BMC Medical Genetics 20, 1-7, 2019
152019
Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report
GAM Kularatnam, D Warawitage, DM Vidanapathirana, S Jayasena, ...
BMC research notes 10, 1-5, 2017
142017
Lipin‐1 deficiency‐associated recurrent rhabdomyolysis and exercise‐induced myalgia persisting into adulthood: A case report and review of literature
NLR Indika, DM Vidanapathirana, E Jasinge, R Waduge, NLA Shyamali, ...
Case Reports in Medicine 2020 (1), 7904190, 2020
122020
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
E Jasinge, GAM Kularatnam, HW Dilanthi, DM Vidanapathirana, ...
BMC research notes 10, 1-6, 2017
122017
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
DM Vidanapathirana, S Jayasena, E Jasinge, B Stiburkova
BMC pediatrics 18, 1-5, 2018
112018
Association of serum uric acid and gamma-glutamyltransferase with obesity related metabolic derangements in a cohort of children with obesity in Sri Lanka
DM Vidanapathirana, EA Jasinge, D Samaranayake, P Wickramasinghe
Ceylon Medical Journal 64 (4), 2019
52019
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis
DM Vidanapathirana, T Rodrigo, S Waidyanatha, E Jasinge, AJ Hooper, ...
Global Pediatric Health 4, 2333794X17715839, 2017
32017
Identification of a novel MTTP splice variant c. 394-2A> C in an infant with abetalipoproteinemia
DM Vidanapathirana, E Jasinge, S Waidyanatha, AJ Hooper, JR Burnett
J Rare Dis Res Treat 4 (2), 25-27, 2019
22019
Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child
E Jasinge, M Fernando, NL Ruwan Indika, R Trunzo, S Schröder, ...
Laboratory medicine 53 (3), e62-e62, 2022
12022
A case of molybdenum cofactor deficiency
DM Vidanapathirana, S Jayasena, EA Jasinge, P Ratnayake, L Fairbanks
Sri Lanka Journal of Child Health 46 (3), 273-274, 2017
12017
Molybdenum Cofactor Deficiency (MoCD): Complementation Groups A–C
DM Vidanapathirana, E Jasinge, AL Misko
Genetic Syndromes: A Comprehensive Reference Guide, 1-6, 2023
2023
Clinical and demographic characteristics of organic acidaemias in children in a tertiary care hospital in Sri Lanka: A 4-year experience in a single centre
DM Vidanapathirana, PMS Fernando, K Jayasena, N Chandrasiri, ...
Sri Lanka Journal of Child Health 52 (3), 307-313, 2023
2023
Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA
NL Indika, R Indika, A Rolfs, C Beetz, S Schröder, C Pereira, V Volha, ...
Journal of Nepal Paediatric Society 42 (2), 80-82, 2022
2022
Case Report Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature
NLR Indika, DM Vidanapathirana, E Jasinge, R Waduge, NLA Shyamali, ...
2020
Lipin-1 deficiency associated recurrent rhabdomyolysis and exercise-induced myalgia persisting into adulthood; A case report and a short review of literature
DM Vidanapathirana, E Jasinge, R Waduge, NLA Shyamali, PPR Perera
系统目前无法执行此操作,请稍后再试。
文章 1–16