Výsledky vyhledávání - "John Feerick"

A Pediatric Case of Severe Vitamin B12 Deficiency Presenting as Transaminitis

Autor: Josue Sanchez, Yingying Zheng, Brittany Lee, Andrea Whitfield, John Feerick

The classic findings of vitamin B12 deficiency include anemia and neurologic symptoms. Elevation of liver enzymes is an atypical finding of this deficiency. In this case report, we present a ten-year-old male with pancytopenia due to vitamin B12 defi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::af6ec51ad866d2ebc29e3271f43eb6aa
https://doi.org/10.22541/au.164873289.95171540/v1

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Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort

Autor: Mary Frances McMullin, Patrick McCallion, Roisin McAllister, Robert J. G. Cuthbert, Julie McGimpsey, Andrew Hindley, Olga Michail, Nicholas C.P. Cross, Graeme Greenfield, John Feerick, Claire Arnold, Mark Catherwood

Publikováno v: Michail, O, McCallion, P, McGimpsey, J, Hindley, A, Greenfield, G, Feerick, J, Arnold, C, Cross, N, Cuthbert, R, McMullin, M F & Catherwood, M A 2020, ' Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort ', Journal of Clinical Pathology . https://doi.org/10.1136/jclinpath-2020-206570

Essential thrombocythaemia (ET) is driven by somatic mutations involving the JAK2, CALR and MPL genes. Approximately 10% of patients lack driver mutations and are referred as ‘triple-negative’ ET (TN-ET). The diagnosis of TN-ET, however, relies o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366eccd761cc2ee2f1507e66fd2cce27
https://pure.qub.ac.uk/en/publications/mutational-profiling-in-suspected-triplenegative-essential-thrombocythaemia-using-targeted-nextgeneration-sequencing-in-a-realworld-cohort(19570fa7-5833-4742-ade0-a2c0e529570f).html

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