Genetic and laboratory diagnostic approach in Niemann Pick disease type C von McKay Bounford, K., Gissen, P.

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Delivering efficient liver-directed AAV-mediated gene therapy von Baruteau, J, Waddington, S N, Alexander, I E, Gissen, P

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Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders von Leo, V. C., Morgan, N. V., Bem, D., Jones, M. L., Lowe, G. C., Lordkipanidzé, M., Drake, S., Simpson, M. A., Gissen, P., Mumford, A., Watson, S. P., Daly, M. E.

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Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) von KURIAN, M. A, MORGAN, N. V, ROSSER, E. M, WASSMER, E, GISSEN, P, MAHER, E. R, MACPHERSON, L, FOSTER, K, PEAKE, D, GUPTA, R, PHILIP, S. G, HENDRIKSZ, C, MORTON, J. E. V, KINGSTON, H. M

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MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation von Davison, James E, Davies, Nigel P, Wilson, Martin, Sun, Yu, Chakrapani, Anupam, McKiernan, Patrick J, Walter, John H, Gissen, P, Peet, Andrew C

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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease von Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.

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G82 Study of Acute Liver Failure in Newborns and Young Children with an Underlying Inherited Metabolic Disease von Hegarty, RM, Dhawan, A, Gissen, P

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Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease von Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.

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Rapid genetic diagnosis of heritable platelet function disorders with next‐generation sequencing: proof‐of‐principle with Hermansky–Pudlak syndrome von JONES, M. L., MURDEN, S. L., BEM, D., MUNDELL, S. J., GISSEN, P., DALY, M. E., WATSON, S. P., MUMFORD, A. D.

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404 The Vps33b-Vipar complex is required for epidermal homeostasis von Rogerson, C., Gissen, P.

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Intracerebroventricular cerliponase alfa for children with CLN2 disease: Interim results from an ongoing phase 2 extension study von Schulz, A, Specchio, N, Gissen, P, de los Reyes, E, Cahan, H, Slasor, P, Ajayi, T, Jacoby, D

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P1248 IDENTIFYING INCIDENCE OF INHERITED METABOLIC DISORDERS IN PATIENTS WITH INFANTILE LIVER DISEASE von Ruth, N.D, Gray, Z, McKay, K, Lloyd, C, Hartley, J, MacDonald, F, Hendriksz, C, Gissen, P, Kelly, D.A

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Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes von Johnson, C A, Gissen, P, Sergi, C

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P92 – 2951: Lack of objective measurements to monitor disease progression and treatment response in Niemann-Pick type C disease von Papandreou, A, Davies, E.H, Alderson, L, Wood, M, Swift, G, Vellodi, A, Kurian, M, Gissen, P

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Enzyme replacement therapy for CLN2 disease: MRI volumetry shows significantly slower volume loss compared to a natural history cohort von Gaur, P, Gissen, P, Biswas, A, Mankad, K, Sudhakar, S, D’Arco, F, Schulz, A, Fiehler, J, Sedlacik, J, Löbel, U

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Nephrotic range albuminuria as a feature of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: three new cases von Holme, A, Gissen, P, Straatman-Iwanowska, A, Inward, C, Coward, R

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10 Differential Diagnosis in Patients with Developmental Delay: Focus on Inborn Errors of Metabolism von Gissen, P

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Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects von Johnson, Ben, Lowe, Gillian C, Futterer, Jane, Lordkipanidzé, Marie, MacDonald, David, Simpson, Michael A, Sanchez-Guiú, Isabel, Drake, Sian, Bem, Danai, Leo, Vincenzo, Fletcher, Sarah J, Dawood, Ban, Rivera, José, Allsup, David, Biss, Tina, Bolton-Maggs, Paula Hb, Collins, Peter, Curry, Nicola, Grimley, Charlotte, James, Beki, Makris, Mike, Motwani, Jayashree, Pavord, Sue, Talks, Katherine, Thachil, Jecko, Wilde, Jonathan, Williams, Mike, Harrison, Paul, Gissen, Paul, Mundell, Stuart, Mumford, Andrew, Daly, Martina E, Watson, Steve P, Morgan, Neil V

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P10 Whole-exome-Sequencing-based discovery of novel syndromic form of neonatal cholestasis von Hartley, J L, Simpson, M, Tee, L, Brown, R M, Kirkham, S, Pasha, S, Trembath, R C, Gissen, P, Maher, E R, Kelly, D A, Morgan, N V

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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome von 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.

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