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  • Articles: DFG German National Licenses  (2)
  • Biliary atresia  (1)
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • 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
    Significance of serum lipoprotein-X and gammaglutamyltranspeptidase in the diagnosis of biliary atresia. A preliminary study in 27 cholestatic young infants (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 54-57 
    Details
    ISSN: 1432-1076
    Keywords: Lipoprotein-X ; γ-Glutamyltranspeptidase ; Biliary atresia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and γ-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young infants. Except for LP-X and GGTP levels (P〈0.01, P〈0.001), there were no significant differences between the BA (n=11) and IC (n=13) groups. When values of mean plus 4 standard deviations were used to differentiate BA from IC (89 mg/100 ml for LP-X and 194 IU/l for GGTP), all BA patients gave positive results for either the crtical LP-X of GGTP values. On the other hand, all IC patients gave negative results for both levels, although patients with a paucity of intrahepatic biliary ducts (n=3) were also positive for either the critical LP-X or GGTP values. The combination test with serum LP-X and GGTP is recommended for helping to differntiate BA from IC in cholestatic young infants.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441853
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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