Burke D - Search Results

1

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Manwaring V, Prunty H, Bainbridge K, Burke D, Finnegan N, Franses R, Lam A, Vellodi A, Heales S. Manwaring V, et al. Among authors: burke d. J Inherit Metab Dis. 2012 Mar;35(2):311-6. doi: 10.1007/s10545-011-9360-2. Epub 2011 Jun 18. J Inherit Metab Dis. 2012. PMID: 21687968

2

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.

Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP. Beesley CE, et al. Among authors: burke d. J Med Genet. 2003 Mar;40(3):192-4. doi: 10.1136/jmg.40.3.192. J Med Genet. 2003. PMID: 12624138 Free PMC article.

3

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ. van Diggelen OP, et al. Among authors: burke d. J Inherit Metab Dis. 2009 Jun;32(3):416-23. doi: 10.1007/s10545-009-1082-3. Epub 2009 Apr 19. J Inherit Metab Dis. 2009. PMID: 19387865

4

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.

Gegg ME, Burke D, Heales SJ, Cooper JM, Hardy J, Wood NW, Schapira AH. Gegg ME, et al. Among authors: burke d. Ann Neurol. 2012 Sep;72(3):455-63. doi: 10.1002/ana.23614. Ann Neurol. 2012. PMID: 23034917 Free PMC article.

5

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Burke DG, Rahim AA, Waddington SN, Karlsson S, Enquist I, Bhatia K, Mehta A, Vellodi A, Heales S. Burke DG, et al. J Inherit Metab Dis. 2013 Sep;36(5):869-72. doi: 10.1007/s10545-012-9561-3. Epub 2012 Nov 15. J Inherit Metab Dis. 2013. PMID: 23151684

6

Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease.

Baruteau J, Broomfield A, Crook V, Finnegan N, Harvey K, Burke D, Burch M, Shepherd G, Vellodi A. Baruteau J, et al. Among authors: burke d. JIMD Rep. 2014;12:99-102. doi: 10.1007/8904_2013_250. Epub 2013 Sep 4. JIMD Rep. 2014. PMID: 24002816 Free PMC article.

7

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: burke d. Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20. Anal Chem. 2015. PMID: 26537538

8

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover.

de la Fuente C, Burke DG, Eaton S, Heales SJR. de la Fuente C, et al. Neurochem Int. 2017 Oct;109:94-100. doi: 10.1016/j.neuint.2017.02.013. Epub 2017 Feb 24. Neurochem Int. 2017. PMID: 28242245

9

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Desai R, et al. Among authors: burke d. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. Brain. 2017. PMID: 28549128 Free PMC article.

10

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Wilson MP, Footitt EJ, Papandreou A, Uudelepp ML, Pressler R, Stevenson DC, Gabriel C, McSweeney M, Baggot M, Burke D, Stödberg T, Riney K, Schiff M, Heales SJR, Mills KA, Gissen P, Clayton PT, Mills PB. Wilson MP, et al. Among authors: burke d. Anal Chem. 2017 Sep 5;89(17):8892-8900. doi: 10.1021/acs.analchem.7b01358. Epub 2017 Aug 17. Anal Chem. 2017. PMID: 28782931 Free PMC article.

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