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  • 1
    Electronic Resource
    Electronic Resource
    Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 154-159 
    Details
    ISSN: 1432-1076
    Keywords: Medium-chain acyl-CoA dehydrogenase deficiency ; Sudden infant death ; Reye syndrome ; Mass screening ; DNA diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians. Patients with this type of mutation have a variety of symptoms, indicating that the clinical heterogeneity of MCAD deficiency may not be caused entirely by genetic heterogeneity. Screening for the mutation among newborns in England, Australia, and United States of America indicates the prevalence of carriers to be 1 in 40–107, suggesting the high incidence of the mutation. Since presymptomatic diagnosis and appropriate dietary management are important in MCAD deficiency to prevent life-threatening complications, the relatively high incidence of this disorder may warrant population screening. The most common MCAD mutation can now be detected by DNA diagnostic methods using Guthrie cards. This makes it possible to screen a population efficiently for this potentially fatal disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954373
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Acute autonomic and sensory neuropathy: a case report (1990)
    Springer
    Journal of neurology 237 (1990), S. 42-44 
    Details
    ISSN: 1432-1459
    Keywords: Acute autonomic and sensory neuropathy ; Epstein-Barr virus ; Orthostatic hypotension ; Peripheral neuropathy ; l-Threo-2,3.-dihydroxyphenylserine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A female patient with acute autonomic and sensory neuropathy is described. Urinary disturbance developed rapidly and was followed by orthostatic syncope, absence of lacrimation, salivation and sweating, and sensory impairment. Muscle strength had been consistently normal despite diffuse muscular atrophy. Marked decrease in the number of small myelinated and unmyelinated fibres was revealed in biopsied sural nerve. Eighteen months after the onset, her autonomic symptoms have partially improved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00319667
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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