Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Dinesha Maduri Vidanapathirana"'
Autor:
Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Nambage Dona Priyani Dhammika Chandrasiri, Eresha Jasinge
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis i
Externí odkaz:
https://doaj.org/article/69f60bd6e9634e4f9abfe358fc1d9cbc
Autor:
Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Eresha Jasinge, Roshitha Waduge, Narangoda Liyanage Ajantha Shyamali, Poruthotage Pradeep Rasika Perera
Publikováno v:
Case Reports in Medicine, Vol 2020 (2020)
Phosphatidate phosphatase-1 (lipin-1) is encoded by LPIN1 gene. Lipin-1 deficiency has been reported as the second most common cause of early-onset rhabdomyolysis after primary fatty acid oxidation disorders. We report a case of a 32-year-old Sri Lan
Externí odkaz:
https://doaj.org/article/6de1af6e6e7d4de2beb51d60b63a3d5b
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-5 (2018)
Abstract Background Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrol
Externí odkaz:
https://doaj.org/article/24b8234fee0144bea972d81b941f83ce
Autor:
Grace Angeline Malarnangai Kularatnam, Dilanthi Warawitage, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Nalika de Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin–Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in t
Externí odkaz:
https://doaj.org/article/1484f087f387482b9358a96def3a9b43
Autor:
Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-6 (2017)
Abstract Background Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. W
Externí odkaz:
https://doaj.org/article/a02bb55bacc249e286795603e7459355
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis
Autor:
Dinesha Maduri Vidanapathirana MBBS, Dip Chem Path, Thushara Rodrigo MBBS, DCH, Samantha Waidyanatha MBBS, MD, MRCP(UK), Eresha Jasinge MBBS, Dip Chem Path, MD, Amanda J. Hooper BSc(Hons), PhD, John R. Burnett MBChB, MD, PhD, FRCPA
Publikováno v:
Global Pediatric Health, Vol 4 (2017)
Externí odkaz:
https://doaj.org/article/ba739de823cc49498536c8ada9577de7
Autor:
Grace Angeline Malarnangai Kularatnam, Hewa Dilanthi Warawitage, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Ginige Nalika Nirmalene de Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-1 (2017)
Abstract Following publication of the original article [1], the authors requested the following corrections: 1. Author 2—given name should be Dilanthi and family name Warawitage. 2. Author 6—given name should be Nalika and family name de Silva.
Externí odkaz:
https://doaj.org/article/f1219dc518f7427783b142edc8638f71
Autor:
Neluwa-Liyanage Indika, Ruwan Indika, Arndt Rolfs, Christian Beetz, Sabine Schröder, Catarina Pereira, Volha Volha, Mihika Fernando, Dinesha Maduri Vidanapathirana, Subhashinie Jayasena, Eresha Jasinge
Publikováno v:
Journal of Nepal Paediatric Society. 42:80-82
Mucopolysaccharidosis type IVA is a rare autosomal recessive lysosomal storage disorder occurring worldwide in all ethnic groups. It is caused by biallelic variants in the GALNS gene (OMIM 612222). We report five cases of mucopolysaccharidosis type I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9996190214fee503503152c1d0e225a7
https://doi.org/10.3126/jnps.v42i2.41954
https://doi.org/10.3126/jnps.v42i2.41954
Publikováno v:
Genetic Syndromes ISBN: 9783319668161
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::906e38413bbd52367aef22e4540318a6
https://doi.org/10.1007/978-3-319-66816-1_1772-1
https://doi.org/10.1007/978-3-319-66816-1_1772-1
Autor:
Patricia M. Jones, Sabine Schröder, Anusha Varuni Gunarathne, Pyara Ratnayake, Neluwa Liyanage Ruwan Indika, Roberta Trunzo, Eresha Jasinge, Dinesha Maduri Vidanapathirana, Mihika Fernando, Subashini Jayasena
Publikováno v:
Laboratory Medicine. 53:e48-e50
Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68f4bae720cc74fc010012628201f00a
https://doi.org/10.1093/labmed/lmab083
https://doi.org/10.1093/labmed/lmab083