Search Results - "FENSOM, A. H"
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The natural history of Niemann–Pick disease type C in the UK
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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Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation
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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3
Argininosuccinate lyase: a new autoantigen in liver disease
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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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
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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5
An adult with a non‐neuronopathic form of Niemann_Pick C disease
Published in Journal of inherited metabolic disease (01-02-1999)Get full text
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6
Co‐cultivation of Niemann‐Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL‐derived cholesterol esterification
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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Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin
Published in Annals of clinical biochemistry (01-07-1997)Get more information
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8
Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations
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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Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells
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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Sandhoff disease in Cyprus : population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
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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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
Published in American journal of human genetics (01-06-2001)“…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
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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13
X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids
Published in Journal of neurology, neurosurgery and psychiatry (01-06-1994)“…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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4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
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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15
Recent advances in the prenatal diagnosis of the mucopolysaccharidoses
Published in Prenatal diagnosis (01-01-1994)Get more information
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16
Characterization of three alleles causing aspartylglycosaminuria : two from a British family and one from an American patient
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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Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin
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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A simple method for screening for Farber disease on cultured skin fibroblasts
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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Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder
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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The natural history of Niemann–Pick disease type C in the UK
Published in Journal of inherited metabolic disease (01-10-2007)Get full text
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