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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: lewis k. 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
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R, White FJ, Schwahn B, Stepien KM, Kamarus Jaman N, McSweeney M, Kitchen S, Gribben J, Dawson C, Lewis K, Cregeen D, Mundy H, Santra S. Halligan R, et al. Among authors: lewis k. JIMD Rep. 2021 Jan 24;59(1):52-59. doi: 10.1002/jmd2.12200. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977030 Free PMC article.
Intronic variants in inborn errors of metabolism: Beyond the exome.
Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Hertzog A, et al. Among authors: lewis k. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers.
Djafar JV, Smith NJ, Johnson AM, Bhattacharya K, Ardern-Holmes SL, Ellaway C, Dale RC, D'Silva AM, Kariyawasam DS, Grattan S, Kandula T, Lewis K, Mohammed SS, Farrar MA. Djafar JV, et al. Among authors: lewis k. Pediatr Neurol. 2023 Dec;149:75-83. doi: 10.1016/j.pediatrneurol.2023.09.006. Epub 2023 Sep 21. Pediatr Neurol. 2023. PMID: 37806042
2,470 results