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Dinesha Maduri Vidanapathirana

Researcher at University of Sri Jayewardenepura

Publications -  13
Citations -  70

Dinesha Maduri Vidanapathirana is an academic researcher from University of Sri Jayewardenepura. The author has contributed to research in topics: Molybdenum cofactor deficiency & Cholestasis of pregnancy. The author has an hindex of 5, co-authored 12 publications receiving 42 citations. Previous affiliations of Dinesha Maduri Vidanapathirana include Lady Ridgeway Hospital for Children.

Papers
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Journal ArticleDOI

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

TL;DR: The spectrum of CFTR mutations in Sri Lanka is heterogeneous and possibly linked to genetic flow from Indian subcontinent and Europe, and the common mutations should be identified by sequencing the entire CFTR gene in adequate number of cystic fibrosis patients in order to design a mutation panel for common regional mutations.
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Many pitfalls in diagnosis of acute intermittent porphyria: a case report

TL;DR: The most common clinical presentation of Acute Intermittent Porphyria is abdominal pain with neurovisceral manifestations which are common to several medical, psychiatric and surgical pathologies, leading to underdiagnosis and misdiagnosis of this disorder, incorrect management, and severe complications.
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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

TL;DR: This is the first identification of a family with mild renal hypouricemia1 associated to the p.T467 M variant, and confirms an uneven geographical and ethnic distribution of Romany prevalent SLC22A12 variant that need to be considered in Asian patients.
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Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

TL;DR: An infant with one novel and one reported mutation within exon 6 of the LPL gene who presented with chylomicronemia, hepatomegaly, and lipemia retinalis is reported.