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  • Acid lipase  (1)
  • Adenine therapy  (1)
  • Arginine  (1)
  • Creatine kinase  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Wolman's disease: Clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 45-53 
    Details
    ISSN: 1432-1076
    Keywords: Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445892
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance (1979)
    Springer
    European journal of pediatrics 131 (1979), S. 33-41 
    Details
    ISSN: 1432-1076
    Keywords: Hyperdibasicaminoaciduria ; Lysinuric protein intolerance ; Loading tests ; Lysine ; Alanine ; Arginine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442783
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Hypocalcemic myopathy in idiopathic hypoparathyroidism (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 280-282 
    Details
    ISSN: 1432-1076
    Keywords: Hypocalcemia ; Myopathy ; Hypoparathyroidism ; Creatine kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A girl with untreated idiopathic hypoparathyroidism presented with muscle weakness, depressed tendonreflexes and elevated serum creatine kinase. No morphological alterations of skeletal muscle or inhibition of muscle phosphorylase could be demonstrated. It is suggested that the myopathic symptoms may be due to functional changes of the muscle membrane during hypocalcemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441220
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    The Lesch-Nyhan syndrome (1973)
    Springer
    European journal of pediatrics 114 (1973), S. 119-130 
    Details
    ISSN: 1432-1076
    Keywords: Lesch-Nyhan syndrome ; Adenine therapy ; Glycine ; Excretion of purine bases in urine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenine administration is the production of the slightly soluble and highly nephrotoxic 2,8-dioxyadenine, which can cause renal damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00440499
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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