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Page 1
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB. Reid ES, et al. Among authors: cleary m. Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221. Brain. 2016. PMID: 27604308 Free PMC article.
The significance of elevated CSF lactate.
Chow SL, Rooney ZJ, Cleary MA, Clayton PT, Leonard JV. Chow SL, et al. Among authors: cleary ma. Arch Dis Child. 2005 Nov;90(11):1188-9. doi: 10.1136/adc.2005.075317. Arch Dis Child. 2005. PMID: 16243873 Free PMC article.
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.
Reid ES, Williams H, Stabej Ple Q, James C, Ocaka L, Bacchelli C, Footitt EJ, Boyd S, Cleary MA, Mills PB, Clayton PT. Reid ES, et al. JIMD Rep. 2016;27:79-84. doi: 10.1007/8904_2015_460. Epub 2015 Oct 8. JIMD Rep. 2016. PMID: 26446091 Free PMC article.
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A, Fletcher J, Davison J, Finnegan N, Fenton M, Chikermane A, Beesley C, Harvey K, Cullen E, Stewart C, Santra S, Vijay S, Champion M, Abulhoul L, Grunewald S, Chakrapani A, Cleary MA, Jones SA, Vellodi A. Broomfield A, et al. Among authors: cleary ma. J Inherit Metab Dis. 2016 Mar;39(2):261-71. doi: 10.1007/s10545-015-9898-5. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497565
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Heywood WE, Camuzeaux S, Doykov I, Patel N, Preece RL, Footitt E, Cleary M, Clayton P, Grunewald S, Abulhoul L, Chakrapani A, Sebire NJ, Hindmarsh P, de Koning TJ, Heales S, Burke D, Gissen P, Mills K. Heywood WE, et al. Among authors: cleary m. Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20. Anal Chem. 2015. PMID: 26537538
1,272 results