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  • 2005-2009
  • 1990-1994  (3)
  • 1980-1984
  • Chemistry  (1)
  • Chronic renal disease  (1)
  • DNA diagnosis  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 154-159 
    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
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  • 2
    ISSN: 1432-1076
    Keywords: Methylmalonic acidaemia ; Type 4 renal tubular acidosis ; Chronic renal disease ; Tubulo-interstitial nephritis ; Hyporeninaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Journal of Applied Polymer Science 53 (1994), S. 113-119 
    ISSN: 0021-8995
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: The permeation behavior of pure He and separation characteristics of He-air mixtures were examined using asymmetric hollow-fiber-type membrane modules of cellulose triacetate. The module was operated in a feed-outside mode. In permeation of pure He, the permeation rate coefficients slightly increased with increasing upstream pressure, and they agreed fairly well with those calculated on the basis of the assumption that the permeate flow inside the fiber is governed by the Hagen-Poiseuille equation. In the single-stage hollow-fiber module used, the molar fraction of He in the permeate stream was increased to 0.99 and 0.999 at the stage cuts of lower than 0.3 when the molar fraction in the feed stream was 0.90 and 0.99, respectively. The molar fractions of He in the permeate stream were numerically evaluated for various combinations of operating conditions in terms of a countercurrent plug flow model. © 1994 John Wiley & Sons, Inc.
    Additional Material: 9 Ill.
    Type of Medium: Electronic Resource
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