Jasinge E - Search Results

1

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

Thadchanamoorthy V, Jayatunga MTR, Dayasiri K, Jasinge E, Jinnah MLM, Pereira C, Skrahina V, Thirukumar M. Thadchanamoorthy V, et al. Among authors: jasinge e. BMC Med Genomics. 2021 Feb 16;14(1):50. doi: 10.1186/s12920-021-00897-z. BMC Med Genomics. 2021. PMID: 33593331 Free PMC article.

2

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

Dayasiri KC, Suraweera N, Nawarathne D, Senanayake UE, Dayanath BKTP, Jasinge E, Weerasekara K. Dayasiri KC, et al. Among authors: jasinge e. BMC Pediatr. 2019 Jun 15;19(1):199. doi: 10.1186/s12887-019-1580-x. BMC Pediatr. 2019. PMID: 31202265 Free PMC article.

3

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

Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, Böttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. Almeida LS, et al. Among authors: jasinge e. Eur J Hum Genet. 2022 Sep;30(9):1029-1035. doi: 10.1038/s41431-022-01119-5. Epub 2022 May 25. Eur J Hum Genet. 2022. PMID: 35614200 Free PMC article.

4

A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.

Vidanapathirana DM, Jayasena S, Jasinge E, Stiburkova B. Vidanapathirana DM, et al. Among authors: jasinge e. BMC Pediatr. 2018 Jun 29;18(1):210. doi: 10.1186/s12887-018-1185-9. BMC Pediatr. 2018. PMID: 29958533 Free PMC article.

5

Many pitfalls in diagnosis of acute intermittent porphyria: a case report.

Indika NLR, Kesavan T, Dilanthi HW, Jayasena KLSPKM, Chandrasiri NDPD, Jayasinghe IN, Piumika UMT, Vidanapathirana DM, Gunarathne KDAV, Dissanayake M, Jasinge E, Arachchi WK, Doheny D, Desnick RJ. Indika NLR, et al. Among authors: jasinge e. BMC Res Notes. 2018 Aug 2;11(1):552. doi: 10.1186/s13104-018-3615-z. BMC Res Notes. 2018. PMID: 30071891 Free PMC article.

6

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

Indika NLR, Vidanapathirana DM, Dilanthi HW, Kularatnam GAM, Chandrasiri NDPD, Jasinge E. Indika NLR, et al. Among authors: jasinge e. BMC Med Genet. 2019 May 24;20(1):89. doi: 10.1186/s12881-019-0815-x. BMC Med Genet. 2019. PMID: 31126253 Free PMC article.

7

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

Hewavitharana H, Jasinge E, Abeysekera H, Wanigasinghe J. Hewavitharana H, et al. Among authors: jasinge e. BMC Pediatr. 2020 Jul 8;20(1):338. doi: 10.1186/s12887-020-02237-z. BMC Pediatr. 2020. PMID: 32641113 Free PMC article.

8

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.

Arunath V, Liyanarachchi MS, Gajealan S, Jasinge E, Weerasekara K, Moheb LA. Arunath V, et al. Among authors: jasinge e. J Med Case Rep. 2021 Sep 1;15(1):441. doi: 10.1186/s13256-021-03013-y. J Med Case Rep. 2021. PMID: 34465376 Free PMC article. Review.

9

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

Rathnasiri A, Senarathne U, Arunath V, Hoole T, Kumarasiri I, Muthukumarana O, Jasinge E, Mettananda S. Rathnasiri A, et al. Among authors: jasinge e. BMC Endocr Disord. 2021 Oct 24;21(1):214. doi: 10.1186/s12902-021-00876-6. BMC Endocr Disord. 2021. PMID: 34689766 Free PMC article.

10

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.

Jasinge E, Kularatnam GAM, Dilanthi HW, Vidanapathirana DM, Jayasena KLSPKM, Chandrasiri NDPD, Indika NLR, Ratnayake PD, Gunasekara VN, Fairbanks LD, Stiburkova B. Jasinge E, et al. BMC Res Notes. 2017 Sep 6;10(1):454. doi: 10.1186/s13104-017-2795-2. BMC Res Notes. 2017. PMID: 28877755 Free PMC article.

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