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New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K. Ryder B, et al. Among authors: thompson s. J Inherit Metab Dis. 2021 Jul;44(4):903-915. doi: 10.1002/jimd.12371. Epub 2021 Mar 29. J Inherit Metab Dis. 2021. PMID: 33634872
Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.
Selvanathan A, Forwood C, Russell J, Batten K, Thompson S, Palmer EE, Macintosh R, Nightingale S, Mitchell R, Alvaro F, Dudding-Byth T, Lunke S, Christodoulou J, Stark Z, White F, Jones SA, Bhattacharya K. Selvanathan A, et al. Among authors: thompson s. Pediatr Blood Cancer. 2023 Apr 24:e30394. doi: 10.1002/pbc.30394. Online ahead of print. Pediatr Blood Cancer. 2023. PMID: 37092873 No abstract available.
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Among authors: thompson s. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L, Selvanathan A, Batten KJ, van Doorn N, Thompson S, Mitchell A, Sampaio H, Dalkeith T, Russell J, Ellaway CJ, Farrar M, Broderick C, Bhattacharya K. Adams L, et al. Among authors: thompson s. JIMD Rep. 2023 Aug 9;64(5):327-336. doi: 10.1002/jmd2.12389. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701325 Free PMC article.
105,957 results
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