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  • 1
    Electronic Resource
    Electronic Resource
    Absence of α-fucosidase activity in two sisters showing a different phenotype (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 27-29 
    Details
    ISSN: 1432-1076
    Keywords: Fucosidosis ; α-fucosidase ; Oligosaccharides ; Mental deterioration ; Clinical heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete α-l-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of α-l-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00661900
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Insulin-like growth factors in lysosomal storage disease (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 29-31 
    Details
    ISSN: 1432-1076
    Keywords: Insulin-like growth factors ; Mannose-6-phosphate/insulin-like growth factor II receptor ; Lysosomal storage disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recent data indicate that insulin-like growth factor II (IGF II) and lysosomal enzymes bind to a common receptor. We measured serum IGF I and II levels in 16 patients with various lysosomal storage disorders. The IGF serum concentrations were normal as long as no marked liver disease was present. Under these conditions no direct interconnection between the lysosomal system and the serum IGF levels was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073885
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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