Search Results - "Fensom, A"

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

“…Summary Niemann–Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (NPC1 and NPC2) produce…”
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Identification of HE1 as the Second Gene of Niemann-Pick C Disease by Naureckiene, Saule, David. E. Sleat, Lackland, Henry, Fensom, Anthony, Vanier, Marie T., Wattiaux, Robert, Jadot, Michel, Lobel, Peter

“…Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of cholesterol from lysosomes. Here…”
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Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease by Lim, Z Y, Ho, A Y L, Abrahams, S, Fensom, A, Aldouri, M, Pagliuca, A, Shaw, C, Mufti, G J

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

“…Abstract Background We report a boy with an unusually late presentation of Farber lipogranulomatosis type l. Case study The first symptoms appeared at the end…”
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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 of the Cysteine-Rich Luminal Loop by Millat, Gilles, Marçais, Christophe, Tomasetto, Catherine, Chikh, Karim, Fensom, Anthony H., Harzer, Klaus, Wenger, David A., Ohno, K., Vanier, Marie T.

“…To obtain more information of the functional domains of the NPC1 protein, the mutational spectrum and the level of immunoreactive protein were investigated in…”
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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group by Millat, Gilles, Chikh, Karim, Naureckiene, Saule, Sleat, David E., Fensom, Anthony H., Higaki, Katsumi, Elleder, Milan, Lobel, Peter, Vanier, Marie T.

“…In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation groups—NPC1, comprising ⩾95% of the families, and NPC2—has been…”
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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group by Steinberg, S J, Ward, C P, Fensom, A H

“…Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell…”
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The natural history of Niemann–Pick disease type C in the UK by 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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Argininosuccinate lyase: a new autoantigen in liver disease by PELLI, N, FENSOM, A. H, SLADE, C, BOA, F, MIELI-VERGANI, G, VERGANI, D

“…Anti‐liver cytosol 1 autoantibody (LC1) characterizes a severe form of autoimmune hepatitis (AIH), staining the cytoplasm of periportal hepatocytes and…”
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An adult with a non‐neuronopathic form of Niemann_Pick C disease by Fensom, A. H., Grant, A. R., Steinberg, S. J., Ward, C. P., Lake, B. D., Logan, E. C., Hulman, G.

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

“…Summary Niemann‐Pick disease type C (NPC) is a neurovisceral storage disorder with an unknown primary deficiency. Somatic cell hybridization experiments using…”
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Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells by Levade, Thierry, Moser, Hugo W., Fensom, Anthony H., Harzer, Klaus, Moser, Ann B., Salvayre, Robert

“…Farber's lipogranulomatosis is an inborn lipid storage disease characterized by tissue accumulation of ceramide due to deficient activity of lysosomal…”
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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 by 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

“…In the last 15 years, four patients with the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth…”
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Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII by 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

“…Although not all mucopolysaccharidosis type VII (MPS VII) neonates present with hydrops fetalis or with related symptoms, hydrops fetalis is a common form of…”
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Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin by Iverson, S A, Cairns, S R, Ward, C P, Fensom, A H

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The effect of medical therapy and islet cell transplantation on diabetic nephropathy : An interim report by FUNG, Michelle A, WARNOCK, Garth L, KOZAK, Sharon E, SUET ON TONG, TRINH, Mary, BLACKBURN, Lorraine, KOZAK, Robert M, FENSOM, Blake A, THOMPSON, David M, ZILIANG AO, KEOWN, Paul, MELOCHE, Mark, SHAPIRO, R. Jean, HO, Stephen, WORSLEY, Dan, MENEILLY, Graydon S, GHOFAILI, Khalidal

“…The effect of islet cell transplantation (ICT) on renal function in type 1 diabetes is uncertain and some recent studies report a significant decline in…”
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Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations by Walley, A J, Barth, M L, Ellis, I, Fensom, A H, Harris, A

“…Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two…”
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The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease by 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.

“…Thirty‐three children ranging from 2 weeks to 12 years of age were selected for allopurinol loading, 16 on the basis of an increased urinary orotate excretion…”
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First half of 2001: "Action Packed" legislative session by Nicholoff, K, Fensom, A

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4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease by Marsh, J, Fensom, A H

“…Conditions for assay of alpha-N-acetylglucosaminidase activity in human cultured fibroblasts, cultured amniotic fluid cells, leucocytes, serum, plasma and…”
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