The natural history of Niemann–Pick disease type C in the UK von 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.

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Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation von Cvitanovic-Sojat, L, Juraski, R. Gjergja, Sabourdy, F, Fensom, A.H, Fumic, K, Paschke, E, Levade, T

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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... von Millat, Gilles, Marçais, Christophe, Tomasetto, Catherine, Chikh, Karim, Fensom, Anthony H., Harzer, Klaus, Wenger, David A., Ohno, K., Vanier, Marie T.

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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group von Millat, Gilles, Chikh, Karim, Naureckiene, Saule, Sleat, David E., Fensom, Anthony H., Higaki, Katsumi, Elleder, Milan, Lobel, Peter, Vanier, Marie T.

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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group von Steinberg, S J, Ward, C P, Fensom, A H

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Argininosuccinate lyase: a new autoantigen in liver disease von PELLI, N, FENSOM, A. H, SLADE, C, BOA, F, MIELI-VERGANI, G, VERGANI, D

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An adult with a non‐neuronopathic form of Niemann_Pick C disease von Fensom, A. H., Grant, A. R., Steinberg, S. J., Ward, C. P., Lake, B. D., Logan, E. C., Hulman, G.

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Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells von Levade, Thierry, Moser, Hugo W., Fensom, Anthony H., Harzer, Klaus, Moser, Ann B., Salvayre, Robert

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Co‐cultivation of Niemann‐Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL‐derived cholesterol esterification von Steinberg, S. J., Mondal, D., Fensom, A. H.

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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 von 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

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Asymptomatic Cholesteryl Ester Storage Disease in an Adult Controlled with Simvastatin von Iverson, S A, Cairns, S R, Ward, C P, Fensom, A H

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Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations von Walley, A J, Barth, M L, Ellis, I, Fensom, A H, Harris, A

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X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids von Kennedy, C R, Allen, J T, Fensom, A H, Steinberg, S J, Wilson, R

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Recent advances in the prenatal diagnosis of the mucopolysaccharidoses von Fensom, A. H., Benson, P. F.

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Characterization of three alleles causing aspartylglycosaminuria : two from a British family and one from an American patient von HYEJEONG PARK, VETTESE, M. B, FENSOM, A. H, FISHER, K. J, ARONSON, N. N

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A simple method for screening for Farber disease on cultured skin fibroblasts von Chatelut, Martine, Feunteun, Jean, Harzer, Klaus, Fensom, Anthony H., Basile, Jean-Pierre, Salvayre, Robert, Levade, Thierry

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The natural history of Niemann–Pick disease type C in the UK von 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.

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Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder von Steinberg, S J, Fensom, A H

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Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin von Park, H., Rossiter, M., Fensom, A. H., Winchester, B., Aronson, N. N.

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Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles von Landels, E C, Green, P M, Ellis, I H, Fensom, A H, Kaback, M M, Lim-Steele, J, Zeiger, K, Levy, N, Bobrow, M

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