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  • Amylo-1,6-glucosidase  (1)
  • Glucose-6-phosphate translocase  (1)
  • Glycogen-storage disease  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Cardiomyopathy in glycogen-storage disease type III: Clinical and echographic study of 18 patients (1991)
    Springer
    Pediatric cardiology 12 (1991), S. 161-163 
    Details
    ISSN: 1432-1971
    Keywords: Glycogen-storage disease ; Amylo-1,6-glucosidase ; Cardiomyopathy ; Echocardiography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Cardiac examinations were performed on 18 patients with glycogen-storage disease (GSD) type III. Clinical examination was always normal and the electrocardiograms revealed nonspecific data. Similarly, serum muscular enzyme activities were not useful in indicating the presence of cardiomyopathy. Echocardiographic evidence of myocardiopathy was found in five of the 16 children studied (mean age, 9.5 years). Echocardiographic parameters remained stable during the follow-up period (at least 3 years). The other 11 children had no echocardiographic evidence of cardiomyopathy. No relationship was found between peripheral myopathy and cardiomyopathy. All patients with GSD type III should be regularly investigated by echocardiography in respect of their cardiac muscle status.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02238523
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Glycogen storage disease: recommendations for treatment (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 226-228 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; Glucose-6-phosphatase ; Glucose-6-phosphate translocase ; Debranching enzyme ; Phosphorylase-6-kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A workshop was held on “Aspects of treatment of patients with glycogen storage disease” within the framework of the Concerted Action “Inborn errors of metabolism” of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442683
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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