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  • 1
    Electronic Resource
    Electronic Resource
    I-Cell disease (Mucolipidosis II) (1975)
    Springer
    Acta neuropathologica 33 (1975), S. 285-305 
    Details
    ISSN: 1432-0533
    Keywords: I-cell disease ; Membrane-bound vacuoles ; Fibroblasts ; Mucopolysaccharidoses ; Mucopolipidoses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The single most characteristic morphological feature in I-cell disease (ICD) is the accumulation of membrane-bound vacuoles in mesenchymal cells (mainly fibroblasts). No true storage can be documented in those vacuoles. That their contents could have been dissolved during fixation or embedding remains however a possibility. Remnants consisting of a few lamellar arrays and of small amounts of fibrillo-granular material are too scarce for histochemical characterization. In hepatocytes large cells in the white pulp of the spleen and in myocardial fibers, vacuoles with fixative insoluble contents have been discovered; they are nowhere very abundant and their specificity is questionable. Because the affected fibroblastic elements represent a small fraction in any organ, most secondary biochemical abnormalities are expected to be detectable only in purely fibroblastic tissues. Our pathological study contributes to the understanding of some of the clinical features characteristic of ICD and stresses major morphological differences between ICD and the many diseases classified as mucopolysaccharidoses and mucolipidoses.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00686161
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Dysplasia epiphysealis capitis femoris? (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 345-347 
    Details
    ISSN: 1432-1076
    Keywords: Dysplasia epiphysealis capitis femoris ; Hip dysplasia ; Osteochondritis ; Legg-Calvé-Perthes disease ; Multiple epiphyseal dysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract From the age of 22 months, a boy with bilateral dysplasia of the femoral heads has been followed clinically and radiologically for over seven years. Initial ascertainment came through his mild but persistent waddling gait. The patients is of small stature with normal linear growth parallel to the third percentile. Hypothyroidism was ruled out. Fixed traction applied at 56/12 years for almost 3 months promptly relieved the one episode of hip pain but did not alter the favorable natural course. The hip dysplasia in this proband may differ from the type of dysplasia epiphysealis capitis femoris originally defined by Meyer. As has been recognized by others, the latter probably represents several related disorders instead of only a single nosological entity. Considerations on differential diagnosis, prognosis, and management are offered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442680
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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