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  • 2005-2009  (1)
  • 1955-1959  (2)
  • 2005  (1)
  • 1958  (2)
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  • 2005-2009  (1)
  • 1955-1959  (2)
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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 153 (2005), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Neutral lipid storage disease (Chanarin–Dorfman syndrome) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids (lipid droplets) in various types of cells. The clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a 4-year-old boy presenting a generalized ichthyosiform disorder manifested by migrating scaly plaques alternating with areas of normal-looking skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes. Genetic studies from the patient and his parents revealed that the patient carried two different and novel mutations of the ABHD5 gene: a nonsense mutation in exon 6 (transmitted by the father) and an insertion/deletion in exon 4 (transmitted by the mother). Our observation demonstrates the clinical heterogeneity of the ichthyosiform dermatoses observed in Chanarin–Dorfman syndrome and widens the clinical range of conditions presenting migrating scaly plaques mimicking EKV.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The present communication deals with the results obtained by studying the incorporation of meth-ionine-35S into the affected nerve cells. In a previous investigation3, it was found that methionine-85S becomes incorporated to a larger extent in the grey matter than in the white matter, and this is ...
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 36 (1958), S. 20-22 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zusammenfassung Mittelwerte und Streuung der AHG-Aktivität stimmen bei Knaben und Mädchen überein. Hiermit ist die Hypothese, nach der die normale Streuung der AHG-Aktivität durch eine X-chromosomale Allelenreihe bedingt wäre, unvereinbar. Konduktorinnen des Hämophilie-Gens zeigen wahrscheinlich eine leichte Verminderung der AHG-Aktivität. Diese Beobachtung spricht dafür, daß bei der Hämophilie nicht allein ein Mangel an AHG vorliegt, sondern ein funktionell minderwertiges Gen-Produkt.
    Type of Medium: Electronic Resource
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