Jasinge E - Search Results

1

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.

2

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.

3

Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

Jasinge E, Fernando M, Indika NR, Trunzo R, Schröder S, Vidanapathirana DM, Jones PM, Jayasena S, Gunarathne AV, Ratnayake P. Jasinge E, et al. Lab Med. 2022 May 5;53(3):e48-e50. doi: 10.1093/labmed/lmab083. Lab Med. 2022. PMID: 34643235

4

Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

Jasinge E, Fernando M, Ruwan Indika NL, Trunzo R, Schröder S, Vidanapathirana DM, Jones PM, Jayasena S, Gunarathne AV, Ratnayake P. Jasinge E, et al. Lab Med. 2022 May 5;53(3):e62. doi: 10.1093/labmed/lmab107. Lab Med. 2022. PMID: 34730174 No abstract available.

5

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

Ozaal S, Jayasena S, Jayakody S, Schröder S, Jayawardana A, Jasinge E. Ozaal S, et al. Among authors: jasinge e. Child Neurol Open. 2022 Nov 15;9:2329048X221139495. doi: 10.1177/2329048X221139495. eCollection 2022 Jan-Dec. Child Neurol Open. 2022. PMID: 36407556 Free PMC article.

6

Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan Child.

Fernando PMS, Gunasekara RASR, Schröder S, Beetz C, Jayawardena A, Jasinge EA. Fernando PMS, et al. Among authors: jasinge ea. Lab Med. 2023 Sep 5;54(5):543-545. doi: 10.1093/labmed/lmac165. Lab Med. 2023. PMID: 36857484 No abstract available.

7

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Ankleshwaria C, et al. Among authors: jasinge e. J Hum Genet. 2014 Apr;59(4):223-8. doi: 10.1038/jhg.2014.5. Epub 2014 Feb 13. J Hum Genet. 2014. PMID: 24522292

8

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.

9

Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature.

Indika NLR, Vidanapathirana DM, Jasinge E, Waduge R, Shyamali NLA, Perera PPR. Indika NLR, et al. Among authors: jasinge e. Case Rep Med. 2020 May 27;2020:7904190. doi: 10.1155/2020/7904190. eCollection 2020. Case Rep Med. 2020. PMID: 32549891 Free PMC article.

10

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

Samarasinghe N, Mahaliyanage D, De Silva S, Jasinge E, Punyasiri N, Dilanthi HW. Samarasinghe N, et al. Among authors: jasinge e. J Genet Eng Biotechnol. 2022 Dec 13;20(1):164. doi: 10.1186/s43141-022-00449-7. J Genet Eng Biotechnol. 2022. PMID: 36512268 Free PMC article.

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