Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T.
Published in Brain (London, England : 1878) (01.05.2014)
Published in Brain (London, England : 1878) (01.05.2014)
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Journal Article
Mitochondrial disorders and general anaesthesia: a case series and review
Footitt, E.J., Sinha, M.D., Raiman, J.A.J., Dhawan, A., Moganasundram, S., Champion, M.P.
Published in British journal of anaesthesia : BJA (01.04.2008)
Published in British journal of anaesthesia : BJA (01.04.2008)
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Journal Article
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy
Footitt, E. J., Stafford, J., Dixon, M., Burch, M., Jakobs, C., Salomons, G. S., Cleary, M. A.
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Journal Article
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review
Footitt, E. J., Karimova, A., Burch, M., Yayeh, T., Dupré, T., Vuillaumier-Barrot, S., Chantret, I., Moore, S. E. H., Seta, N., Grunewald, S.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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Journal Article
G471 Clinical characteristics, laboratory findings and management data in a single-center cohort of patients with heterozygous familial hypercholesterolemia
Elkhateeb, N, Uudelepp, ML, Chakrapani, A, Cleary, M, Davison, J, Footitt, E, Grünewald, S, Batzios, S
Published in Archives of disease in childhood (01.10.2020)
Published in Archives of disease in childhood (01.10.2020)
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Journal Article
Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders
White, MK, Davison, JE, Gan, C, Mnkandla, S, Camero, I, Batzios, S, Chakrapani, A, Footitt, E, Gissen, P, Grunewald, S, Cleary, MA
Published in Archives of disease in childhood (01.05.2017)
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Published in Archives of disease in childhood (01.05.2017)
Journal Article
G388(P) Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders
White, MK, Davison, JE, Gan, C, Mnkandla, S, Camero, I, Batzios, S, Chakrapani, A, Footitt, E, Gissen, P, Grunewald, S, Cleary, MA
Published in Archives of disease in childhood (01.05.2017)
Published in Archives of disease in childhood (01.05.2017)
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Journal Article
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, Matthew P, Footitt, Emma J, Papandreou, Apostolos, Uudelepp, Mari-Liis, Pressler, Ronit, Stevenson, Danielle C, Gabriel, Camila, McSweeney, Mel, Baggot, Matthew, Burke, Derek, Stödberg, Tommy, Riney, Kate, Schiff, Manuel, Heales, Simon J. R, Mills, Kevin A, Gissen, Paul, Clayton, Peter T, Mills, Philippa B
Published in Analytical chemistry (Washington) (05.09.2017)
Published in Analytical chemistry (Washington) (05.09.2017)
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