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Post-Treatment Movement Disorder in a Child with Late-onset Cobalamin Deficiency.
Fadilah A, Baxter PS, Sarrigiannis PG, Sengupta S, Sharrard MJ, Mordekar SR. Fadilah A, et al. Among authors: sharrard mj. Mov Disord Clin Pract. 2021 Dec 27;9(2):245-248. doi: 10.1002/mdc3.13387. eCollection 2022 Feb. Mov Disord Clin Pract. 2021. PMID: 35146063 Free PMC article. No abstract available.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. Keshavan N, et al. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462754 Free article.
Carnitine-acylcarnitine translocase deficiency--a mild phenotype.
Olpin SE, Bonham JR, Downing M, Manning NJ, Pollitt RJ, Sharrard MJ, Tanner MS. Olpin SE, et al. Among authors: sharrard mj. J Inherit Metab Dis. 1997 Sep;20(5):714-5. doi: 10.1023/a:1005343013873. J Inherit Metab Dis. 1997. PMID: 9323572 No abstract available.
22 results