The natural history of Niemann–Pick disease type C in the UK
Imrie, J., Dasgupta, S., Besley, G. T. N., Harris, C., Heptinstall, L., Knight, S., Vanier, M. T., Fensom, A. H., Ward, C., Jacklin, E., Whitehouse, C., Wraith, J. E.
Published in Journal of inherited metabolic disease (01.02.2007)
Published in Journal of inherited metabolic disease (01.02.2007)
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Identification of HE1 as the Second Gene of Niemann-Pick C Disease
Naureckiene, Saule, David. E. Sleat, Lackland, Henry, Fensom, Anthony, Vanier, Marie T., Wattiaux, Robert, Jadot, Michel, Lobel, Peter
Published in Science (American Association for the Advancement of Science) (22.12.2000)
Published in Science (American Association for the Advancement of Science) (22.12.2000)
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Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease
Lim, Z Y, Ho, A Y L, Abrahams, S, Fensom, A, Aldouri, M, Pagliuca, A, Shaw, C, Mufti, G J
Published in Bone marrow transplantation (Basingstoke) (01.05.2008)
Published in Bone marrow transplantation (Basingstoke) (01.05.2008)
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Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation
Cvitanovic-Sojat, L, Juraski, R. Gjergja, Sabourdy, F, Fensom, A.H, Fumic, K, Paschke, E, Levade, T
Published in European journal of paediatric neurology (01.03.2011)
Published in European journal of paediatric neurology (01.03.2011)
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Journal Article
Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop
Millat, Gilles, Marçais, Christophe, Tomasetto, Catherine, Chikh, Karim, Fensom, Anthony H., Harzer, Klaus, Wenger, David A., Ohno, K., Vanier, Marie T.
Published in American journal of human genetics (01.06.2001)
Published in American journal of human genetics (01.06.2001)
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Journal Article
Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group
Millat, Gilles, Chikh, Karim, Naureckiene, Saule, Sleat, David E., Fensom, Anthony H., Higaki, Katsumi, Elleder, Milan, Lobel, Peter, Vanier, Marie T.
Published in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
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Journal Article
The natural history of Niemann–Pick disease type C in the UK
Imrie, J., Dasgupta, S., Besley, G. T. N., Harris, C., Heptinstall, L., Knight, S., Vanier, M. T., Fensom, A. H., Ward, C., Jacklin, E., Whitehouse, C., Wraith, J. E.
Published in Journal of inherited metabolic disease (01.10.2007)
Published in Journal of inherited metabolic disease (01.10.2007)
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Argininosuccinate lyase: a new autoantigen in liver disease
PELLI, N, FENSOM, A. H, SLADE, C, BOA, F, MIELI-VERGANI, G, VERGANI, D
Published in Clinical and experimental immunology (01.12.1998)
Published in Clinical and experimental immunology (01.12.1998)
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An adult with a non‐neuronopathic form of Niemann_Pick C disease
Fensom, A. H., Grant, A. R., Steinberg, S. J., Ward, C. P., Lake, B. D., Logan, E. C., Hulman, G.
Published in Journal of inherited metabolic disease (01.02.1999)
Published in Journal of inherited metabolic disease (01.02.1999)
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Journal Article
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells
Levade, Thierry, Moser, Hugo W., Fensom, Anthony H., Harzer, Klaus, Moser, Ann B., Salvayre, Robert
Published in Journal of the neurological sciences (01.12.1995)
Published in Journal of the neurological sciences (01.12.1995)
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Sandhoff disease in Cyprus : population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
DROUSIOTOU, A, STYLIANIDOU, G, FURIHATA, K, UENO, I, IOANNOU, P. A, FENSOM, A. H, ANASTASIADOU, V, CHRISTOPOULOS, G, MAVRIKIOU, E, GEORGIOU, T, KALAKOUTIS, G, OLADIMEJI, A, HARA, Y, SUZUKI, K
Published in Human genetics (01.07.2000)
Published in Human genetics (01.07.2000)
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Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
VERVOORT, R, RAFIQUL ISLAM, M, SLY, W. S, ZABOT, M.-T, KLEIJER, W. J, CHABAS, A, FENSOM, A, YOUNG, E. P, LIEBAERS, I, LISSENS, W
Published in American journal of human genetics (01.03.1996)
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Published in American journal of human genetics (01.03.1996)
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Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin
Iverson, S A, Cairns, S R, Ward, C P, Fensom, A H
Published in Annals of clinical biochemistry (01.07.1997)
Published in Annals of clinical biochemistry (01.07.1997)
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The effect of medical therapy and islet cell transplantation on diabetic nephropathy: an interim report
Fung, Michelle A, Warnock, Garth L, Ao, Ziliang, Keown, Paul, Meloche, Mark, Shapiro, R Jean, Ho, Stephen, Worsley, Dan, Meneilly, Graydon S, Al Ghofaili, Khalid, Kozak, Sharon E, Tong, Suet On, Trinh, Mary, Blackburn, Lorraine, Kozak, Robert M, Fensom, Blake A, Thompson, David M
Published in Transplantation (15.07.2007)
Published in Transplantation (15.07.2007)
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Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations
Walley, A J, Barth, M L, Ellis, I, Fensom, A H, Harris, A
Published in Journal of medical genetics (01.04.1993)
Published in Journal of medical genetics (01.04.1993)
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Conference Proceeding
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease
Bonham, J. R., Guthrie, P., Downing, M., Allen, J. C., Tanner, M. S., Sharrard, M., Rittey, C., Land, J. M., Fensom, A., O'Neill, D., Duley, J. A., Fairbanks, L. D.
Published in Journal of inherited metabolic disease (01.04.1999)
Published in Journal of inherited metabolic disease (01.04.1999)
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