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  • 1
    Electronic Resource
    Electronic Resource
    X-linked recessive ichthyosis and autosomal dominant ichthyosis segregating in the same family (1981)
    Springer
    Archives of dermatological research 271 (1981), S. 149-156 
    Details
    ISSN: 1432-069X
    Keywords: X-linked recessive ichthyosis ; Autosomal dominant ichthyosis ; Heterozygote detection ; Steroid sulfatase ; X-chromosomal rezessive Ichthyosis ; autosomal dominante Ichthyosis ; Heterozygotentest ; Steroidsulfatase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Eine Familie, in der die autosomal dominante Ichthyosis vulgaris und die X-chromosomal rezessive Ichthyosis in drei Generationen segregieren, wurde klinisch, histologisch und biochemisch untersucht. Die Bestimmung der Steroidsulfataseaktivität bestätigte die Diagnose einer X-chromosomal recessiven Ichthyosis und erlaubte die Erkennung heterozygoter Konduktorinnen.
    Notes: Summary Autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis segregated in three generations of a family and was studied clinically, histologically, and biochemically. Determination of stereoid sulfatase activity ascertained the diagnosis of X-linked recessive ichthyosis and allowed detection of heterozygous carriers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00412541
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 19-21 
    Details
    ISSN: 1432-1076
    Keywords: Steroid sulfatase deficiency ; X-linked recessive ichthyosis ; birth complications ; cryptorchidism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed bilateral inguinal cryptorchidism and one was affected unilaterally. In a further boy we obsered unilateral inguinal cryptorchidism without a history of birth complications. In one patient who had been delivered by forceps, abdominal bilateral cryptorchidism resulted in severe hypogenitalism. A review of the literature revealed 30 cases with X-linked recessive ichthyosis displaying hypogenitalism or crytorchidism or both. In conclusion, cryptorchidism should be considered as a further clinical manifestation of steroid sulfatase deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00661898
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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