Výsledky vyhledávání - "Ishara Minuri Kumarasiri"

Akademický článek

A child with Imerslund-Gräsbeck syndrome concealed by co‐existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report

Autor: Visvalingam Arunath, Thabitha Jebaseeli Hoole, Asanka Rathnasri, Oshanie Muthukumarana, Ishara Minuri Kumarasiri, Nishadi Dananjani Liyanage, Yasintha Costa, Sachith Mettananda

Publikováno v: BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)

Abstract Background Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B12 deficiency and proteinuria. Case presentation A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks d

Externí odkaz: https://doaj.org/article/a35e5786e94642b7821772050895aed2

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

Autor: U.D. Senarathne, Sachith Mettananda, Oshanie Muthukumarana, Visvalingam Arunath, Thabitha Jebaseeli Hoole, Eresha Jasinge, Asanka Rathnasiri, Ishara Minuri Kumarasiri

Publikováno v: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
BMC Endocrine Disorders

Background Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0987628d7b6a4d79ff547ae3b8c8e1
https://doaj.org/article/5e97017a0b574e7aa36df26c17afa31e

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A child with Imerslund-Gräsbeck syndrome concealed by co‐existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report

Autor: Thabitha Jebaseeli Hoole, Visvalingam Arunath, Sachith Mettananda, Oshanie Muthukumarana, Yasintha Costa, Asanka Rathnasri, Ishara Minuri Kumarasiri, Nishadi Dananjani Liyanage

Publikováno v: BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)
BMC Pediatrics

BackgroundImerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B12deficiency and proteinuria.Case presentationA 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e266bb09087675683ea92b0a72d556aa
https://doaj.org/article/a35e5786e94642b7821772050895aed2

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Acute on chronic osteomyelitis due to coliforms in a Sri Lankan child with homozygous sickle cell disease

Autor: Oshanie Muthukumarana, Gayana Mahendra, Sachith Mettananda, Visvalingam Arunath, Thabitha Jebaseeli Hoole, Ishara Minuri Kumarasiri, Anuja Premawardhena, G. B. A. M. Rathnasiri Rathnasiri, M H A D de Silva

Publikováno v: Sri Lanka Journal of Child Health. 50:558

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5bf60ccb050f2dfd2419ccfbf7634b70
https://doi.org/10.4038/sljch.v50i3.9749

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