Search Results - "GISSEN, P."

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

“…Niemann Pick disease type C (NP-C) is a rare autosomal recessive disorder that results from mutations in either the NPC1 or the NPC2 gene. The estimated…”
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Delivering efficient liver-directed AAV-mediated gene therapy by Baruteau, J, Waddington, S N, Alexander, I E, Gissen, P

“…Adeno-associated virus vectors (AAV) have become the leading technology for liver-directed gene therapy. After the pioneering trials using AAV2 and AAV8…”
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Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders by 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.

“…Summary Background Inherited platelet function disorders (PFDs) are heterogeneous, and identification of the underlying genetic defects is difficult when based…”
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Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) by 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

“…Neurodegeneration associated with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders in which disruption of cellular mechanisms leads…”
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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 by Davison, James E, Davies, Nigel P, Wilson, Martin, Sun, Yu, Chakrapani, Anupam, McKiernan, Patrick J, Walter, John H, Gissen, P, Peet, Andrew C

“…Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period. Despite best current…”
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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease by 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.

“…Objectives To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease…”
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G82 Study of Acute Liver Failure in Newborns and Young Children with an Underlying Inherited Metabolic Disease by Hegarty, RM, Dhawan, A, Gissen, P

“…Aims To study the demographic, clinical and laboratory findings, diagnoses and outcome of children under 5 years who were admitted with acute liver failure…”
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Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease by 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.

“…Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here:…”
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Rapid genetic diagnosis of heritable platelet function disorders with next‐generation sequencing: proof‐of‐principle with Hermansky–Pudlak syndrome by 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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Intracerebroventricular cerliponase alfa for children with CLN2 disease: Interim results from an ongoing phase 2 extension study by 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 by 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 by Johnson, C A, Gissen, P, Sergi, C

“…The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC…”
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Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors by Watson, S, Daly, M, Dawood, B, Gissen, P, Makris, M, Mundell, S, Wilde, J, Mumford, A

“…Platelet number or function disorders cause a range of bleeding symptoms from mild to severe. Patients with platelet dysfunction but normal platelet number are…”
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P92 – 2951: Lack of objective measurements to monitor disease progression and treatment response in Niemann-Pick type C disease by Papandreou, A, Davies, E.H, Alderson, L, Wood, M, Swift, G, Vellodi, A, Kurian, M, Gissen, P

“…Objectives Niemann Pick type C (NP-C) disease is a clinically heterogeneous disorder with variable onset and rate of progression of neurological deterioration…”
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Nephrotic range albuminuria as a feature of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: three new cases by Holme, A, Gissen, P, Straatman-Iwanowska, A, Inward, C, Coward, R

“…Aims Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by defects in two proteins (VPS33B and VIPAR),…”
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404 The Vps33b-Vipar complex is required for epidermal homeostasis by Rogerson, C., Gissen, P.

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A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13 by Morgan, N V, Bacchelli, C, Gissen, P, Morton, J, Ferrero, G B, Silengo, M, Labrune, P, Casteels, I, Hall, C, Cox, P, Kelly, D A, Trembath, R C, Scambler, P J, Maher, E R, Goodman, F R, Johnson, C A

“…Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and…”
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Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene by Sanseverino, M. T. V., de Souza, C. F. M., Gissen, P., Sordi, A. O., Magalhães, J. A., Schüler‐Faccini, L.

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Ophthalmic follow‐up of patients with tyrosinaemia type I on NTBC by Gissen, P., Preece, M. A., Willshaw, H. A., McKiernan, P. J.

“…NTBC has revolutionized the management of tyrosinaemia type I, although animal experiments have shown that long‐term administration may produce corneal…”
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G476(P) Aminoacylase 1 deficiency, a clinical prospect by KamarusJaman, N, Davison, J, Gissen, P, Krywawych, S

“…BackgroundAminoacylase-1 deficiency(OMIM 609924) is a rare form of inborn error of metabolism ( IEM) (Van Coster et al.2005 Sass et al. 2006) inherited by…”
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