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  • Adenine therapy  (1)
  • Arginine  (1)
  • Creatine kinase  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance (1979)
    Springer
    European journal of pediatrics 131 (1979), S. 33-41 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Hyperdibasicaminoaciduria ; Lysinuric protein intolerance ; Loading tests ; Lysine ; Alanine ; Arginine
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00442783
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  • 2
    Digitale Medien
    Digitale Medien
    Hypocalcemic myopathy in idiopathic hypoparathyroidism (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 280-282 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Hypocalcemia ; Myopathy ; Hypoparathyroidism ; Creatine kinase
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00441220
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  • 3
    Digitale Medien
    Digitale Medien
    The Lesch-Nyhan syndrome (1973)
    Springer
    European journal of pediatrics 114 (1973), S. 119-130 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Lesch-Nyhan syndrome ; Adenine therapy ; Glycine ; Excretion of purine bases in urine
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00440499
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