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  • 1
    Electronic Resource
    Electronic Resource
    Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis (1999)
    Springer
    Neuroradiology 41 (1999), S. 835-839 
    Details
    ISSN: 1432-1920
    Keywords: Key words Porphyria ; acute intermittent ; Encephalopathy ; porphyric ; Myelinolysis ; central pontine ; Necrosis ; cortical laminar ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Acute intermittent porphyria (AIP) is an autosomal-dominant disease caused by a deficiency of porphobilinogen (PBG) deaminase. Patients with AIP present with neurological syndromes such as autonomic neuropathy, peripheral axonal neuropathy or central nervous system dysfunction. We report serial MRI of a patient with AIP who had cortical and subcortical cerebral changes. A 29-year-old woman with a 6-month history of AIP had an attack with severe hyponatraemia and generalised convulsions, treated with haem arginate and supportive therapy. MRI showed central pontine and extrapontine myelinolysis and cortical laminar necrosis. These are not common in AIP, but are likely to have been caused by rapid correction of hyponatraemia and by vasospasm, which could be induced by AIP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050852
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  • 2
    Electronic Resource
    Electronic Resource
    A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family (1998)
    Springer
    Journal of human genetics 43 (1998), S. 182-184 
    Details
    ISSN: 1435-232X
    Keywords: Key words Hereditary coproporphyria ; Coproporphyrinogen oxidase ; Gene mutation ; Single base deletion ; Frame shift
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO). Only 11 mutations of the gene have been reported to date as the mutations responsible for HCP. We report here a novel mutation of the gene responsible for the disease in a Japanese family. Analysis of the polymerase chain reaction (PCR) amplified DNA fragments of the gene by direct-sequencing and/or cloning-based sequencing methods revealed the gene abnormality responsible for the disease. The mutation found was a single base deletion of T at nt position 526, which results in frame shift and truncation of coded protein at amino acid position 204. Screening of pre-symptomatic cases seemed to be possible by PCR restriction analysis using restriction enzyme Xcm I.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050065
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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