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  • 1
    Electronic Resource
    Electronic Resource
    Fish odour syndrome with features of both primary and secondary trimethylaminuria (2003)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 28 (2003), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We report a patient with the fish odour syndrome who has both primary and secondary trimethylaminuria. The diagnosis was made using biochemical and genetic analysis in the apparent absence of any characteristic smell. Differentiation of primary and secondary trimethylaminuria is usually made on urinary analysis of trimethylamine and its metabolite trimethylamine N-oxide, with different, characteristic patterns of both compounds in primary and secondary trimethylaminuria. Our patient had biochemical analysis consistent with a diagnosis of secondary trimethylaminuria, while analysis of the flavin-containing mono-oxygenase 3 gene, the causative gene in primary trimethylaminuria, demonstrated three sequence polymorphisms, two of which are known to reduce enzyme activity. The patient showed temporary clinical and biochemical response to treatment with metronidazole and neomycin. It is important to be aware of this diagnosis in patients without obvious clinical signs, and of the subjective benefits of treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2003.01230.x
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Effect of limb tourniquet on cerebral perfusion pressure in a head-injured patient (1989)
    Oxford, UK : Blackwell Publishing Ltd
    Anaesthesia 44 (1989), S. 0 
    Details
    ISSN: 1365-2044
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Thirty percent of patients with severe head injury also have significant extracranial injuries. Treatment for these injuries should not be allowed to jeopardise the brain which is more susceptible to damage in these circumstances. A case is presented in which significant decrease in cerebral perfusion pressure occurred consequent upon use of a lower limb tourniquet.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2044.1989.tb09199.x
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Screening for hypercholesterolaemia in 10,000 neonates in a multi-ethnic population (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 833-837 
    Details
    ISSN: 1432-1076
    Keywords: Key words Neonatal screening ; Familial hypercholesterolaemia ; Apolipoprotein B ; Blood spots
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An immunoassay was developed for the detection of hypercholesterolaemia in dried blood spots collected from 6-day-old neonates. Blood spot samples (9,673) were subjected to immunoturbidimetric assay to determine the levels of apolipoprotein B (apoB), an index of plasma low density lipoprotein, and of apolipoprotein A-1 (apoA-1), an index of plasma high density lipoprotein. Infants with raised apoB or a reduced apoA-1/apoB ratio were recalled, retested and, if appropriate, referred to the Vascular Risk Clinic at King's College Hospital for medical management. A total of 189 were recalled for further testing; of whom 82 (45%) attended the recall clinic. A group of 16 families (24 individuals) had abnormal lipid profiles; of these, 7 families (14 individuals) had lipid profiles consistent with inherited hypercholesterolaemia. Conclusion Neonatal screening for hypercholesterolaemia using blood spot apolipo- protein measurements is feasible but ethnic variations in disease prevalence must be considered in the design of a screening programme.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051217
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    The genetics of the sixth and seventh components of complement in the dog: Polymorphism, linkage, locus duplication, and silent alleles (1983)
    Springer
    Biochemical genetics 21 (1983), S. 81-91 
    Details
    ISSN: 1573-4927
    Keywords: dog ; complement ; C6 ; C7 ; polymorphism ; linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract The complement components C6 and C7 exhibit genetic polymorphism in the domestic dog. In the case of C6, there is a single locus with a null allele and two structural alleles; in the case of C7, there are two linked loci, each with three structural alleles. There is a null allele or locus deletion at one of these loci. In all cases, inheritance is autosomal and codominant. The C7 loci are closely linked to each other and to C6. This complex is not close to the dog major histocompatibility complex (MHC) locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02395393
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    The genetics of the sixth and seventh components of complement in the dog: Polymorphism, linkage, locus duplication, and silent alleles (1983)
    Springer
    Biochemical genetics 21 (1983), S. 81-91 
    Details
    ISSN: 1573-4927
    Keywords: dog ; complement ; C6 ; C7 ; polymorphism ; linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract The complement components C6 and C7 exhibit genetic polymorphism in the domestic dog. In the case of C6, there is a single locus with a null allele and two structural alleles; in the case of C7, there are two linked loci, each with three structural alleles. There is a null allele or locus deletion at one of these loci. In all cases, inheritance is autosomal and codominant. The C7 loci are closely linked to each other and to C6. This complex is not close to the dog major histocompatibility complex (MHC) locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00000007
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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