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  • 1980-1984  (3)
  • 1
    Electronic Resource
    Electronic Resource
    A new R-banding technique in clinical cytogenetics (1980)
    Springer
    Human genetics 〈Berlin〉 54 (1980), S. 41-45 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Currently, standard methods of chromosome banding detect an abnormality in some 10%–15% of all patients referred for a cytogenetic study. Higher resolution by the study of the less contracted chromosomes with or without cell synchronization techniques may yield higher frequencies in the future. On the other hand, use of more complicated methodology adds to the time and expense needed for the study. The method of 5′ bromodeoxyuridine pretreatment of cells in culture is commonly used to study the replication behavior of X chromosomes, and is known to demonstrate R bands along the other chromosomes. We have modified this technique with the addition of a cell synchronization step and evaluated several variables that are of importance in a clinical service laboratory setting. The method offers a simple way to obtain quality R-banded karyotypes. The advantages and limitations, based on our study of 120 consecutive cultures, are described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279047
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 142-147 
    Details
    ISSN: 1432-1076
    Keywords: Lysosomal storage disease ; Sialic acid ; Mucolipidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe two sibs with coarse facies, hepatosplenomegaly, prominent psychomotor retardation and unexpectedly fair complexion. Ultrastructural studies of conjunctival, skin, bone marrow and liver biopsies from these individuals showed generalized lysosomal storage of polysaccharidelike material, i.e., membrane bound inclusions containing sparse, fibrillo-granular material. Biochemical analyses of urine and cultured fibroblasts from these patients revealed increased levels of free (unbound) sialic acid. The ultrastructural and biochemical findings in these sibs are similar to those previously found in Salla disease, however, the clinical course is much more severe. It is concluded that these children represent a new pathogenetic entity whose basic defect is still to be defined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441499
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Treatment of thecbl B form of methylmalonic acidaemia with adenosylcobalamin (1984)
    Springer
    Journal of inherited metabolic disease 7 (1984), S. 65-68 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 30-month-old girl was found to have thecbl B mutant form of methylmalonic aciduria by complementation analysis of fibroblasts. She was unresponsive to hydroxycobalamin and was treated with intramuscular adenosylcobalamin (AdoCbl), the deficient coenzyme, at a dose of 1 mg/24 h during a period of clinical stability. Serum cobalamin increased from 770 to 54 200 pg/ml. Mean urinary methylmalonic acid excretion was 409 mg/24 h prior to therapy. There was a transient fall in methylmalonic acid excretion during the first 5 days of therapy (range 167–245 mg/24 h) followed by a rise in excretion toward pretreatment levels (range 317–485 mg/24 h) during the second week of AdoCbl treatment. There was no change in plasma ammonia, glycine or serum bicarbonate level. We interpret the failure of this child to have a sustained and clinically significant response to AdoCbl as indicating that AdoCbl did not reach or enter the mitochondria intact, or in some other way was unavailable as a coenzyme for the methylmalonyl CoA mutase apoenzyme.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01805805
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    Paper (German National Licenses)
    Fulltext
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