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  • Electronic Resource  (2)
  • Diabetes insipidus  (1)
  • Protein losing enteropathy  (1)
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  • Electronic Resource  (2)
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  • 1
    Electronic Resource
    Electronic Resource
    13q-/r(13) mosaicism (1981)
    Springer
    European journal of pediatrics 136 (1981), S. 101-104 
    Details
    ISSN: 1432-1076
    Keywords: Chromosome anomalies ; Chromosome mosaicism ; Chromosome 13q- ; Ring chromosome 13 ; Diabetes insipidus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 2-month-old female infant with typical features of the 13q- syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del (13)(q22)/46,XX,r(13)(p13q22). She has not been able to maintain normal values of serum Na and Cl since the second day of life: this may be induced by cerebral dysgenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441721
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Congenital Letterer-Siwe disease associated with protein losing enteropathy (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 77-80 
    Details
    ISSN: 1432-1076
    Keywords: Letterer-Siwe disease ; Protein losing enteropathy ; Immunodeficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of congenital Letterer-Siwe disease associated with protein losing enteropathy is presented. The patient was born at term after an uneventful pregnancy, and generalized eczematous skin eruptions were observed at birth. Excessive protein loss from the intestine was recognized. A cutaneous biopsy from typical lesions revealed histiocytic infiltrations and Langerhans' cell granules in the cytoplasm of the histiocytes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445898
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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