Search Results - "FENSOM, A. H"

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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.

    Published in Journal of inherited metabolic disease (01-02-2007)
    “…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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    Journal Article
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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

    Published in European journal of paediatric neurology (01-03-2011)
    “…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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    Journal Article
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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

    Published in Clinical and experimental immunology (01-12-1998)
    “…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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    Journal Article
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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

    Published in Journal of medical genetics (01-04-1994)
    “…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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    Journal Article
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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.

    Published in Journal of inherited metabolic disease (01-01-1996)
    “…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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    Journal Article
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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

    Published in Journal of medical genetics (01-04-1993)
    “…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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    Journal Article Conference Proceeding
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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

    Published in Journal of the neurological sciences (01-12-1995)
    “…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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    Journal Article
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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

    Published in Human genetics (01-07-2000)
    “…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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    Journal Article
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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.

    Published in American journal of human genetics (01-11-2001)
    “…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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    Journal Article
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    X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids by Kennedy, C R, Allen, J T, Fensom, A H, Steinberg, S J, Wilson, R

    “…Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has…”
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    Journal Article
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    4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease by Marsh, J, Fensom, A H

    Published in Clinical genetics (01-03-1985)
    “…Conditions for assay of alpha-N-acetylglucosaminidase activity in human cultured fibroblasts, cultured amniotic fluid cells, leucocytes, serum, plasma and…”
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    Journal Article
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    Characterization of three alleles causing aspartylglycosaminuria : two from a British family and one from an American patient by HYEJEONG PARK, VETTESE, M. B, FENSOM, A. H, FISHER, K. J, ARONSON, N. N

    Published in Biochemical journal (15-03-1993)
    “…Aspartylglycosaminuria (AGU) is a lysosomal storage disease principally occurring in Finland that results from mutations in the structural gene for…”
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    Journal Article
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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 by Park, H., Rossiter, M., Fensom, A. H., Winchester, B., Aronson, N. N.

    Published in Journal of inherited metabolic disease (01-01-1996)
    “…Summary Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion…”
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    Journal Article
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    A simple method for screening for Farber disease on cultured skin fibroblasts by Chatelut, Martine, Feunteun, Jean, Harzer, Klaus, Fensom, Anthony H., Basile, Jean-Pierre, Salvayre, Robert, Levade, Thierry

    Published in Clinica chimica acta (09-02-1996)
    “…Farber disease is an inborn lysosomal storage disorder characterized by accumulation of ceramide in the patient's tissues due to the deficient activity of acid…”
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    Journal Article
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    Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder by Steinberg, S J, Fensom, A H

    Published in Journal of medical genetics (01-04-1996)
    “…The generalised peroxisomal disorders (GPDs) Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD), and infantile Refsum's disease (IRD) are autosomal…”
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    Journal Article
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