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  • Non-ketotic hyperglycinaemia  (2)
  • Acute autonomic and sensory neuropathy  (1)
  • Breast milk jaundice  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 144 (1985), S. 37-40 
    ISSN: 1432-1076
    Schlagwort(e): Serum bile acid ; Breast milk jaundice
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breastor bottle-fed infants without jaundice. However, there were no significant differences between the groups. All the breast-fed infants examined, regardless of association with jaundice, had a bile acid pattern dominated by taurine conjugates (the ratio of glycine- to taurine-conjugated bile acid, G/T ratio, less than 1.00). In contrast, the bottle-fed infants without jaundice had a pattern dominated by glycine conjugates (G/T ratio, more than 1.00). Among the breast-fed infants with jaundice, the mean G/T ratio in those who had serum bilirubin levels over 10 mg/100 ml was significantly lower than that in those who had serum bilirubin levels of less than 10 mg/100 ml. The altered bile acid metabolism might be associated with the pathology of breast milk jaundice.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1432-1076
    Schlagwort(e): Non-ketotic hyperglycinaemia ; Strychnine ; Glycine cleavage system
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Sisters with a mild variant of non-ketotic hyperglycinaemia resulting from a defect in the T-protein of the glycine cleavage system had different clinical outcomes. The older sister was ascertained at 6 months of age because of mental retardation. She received only brief treatment with sodium benzoate from 11–15 months and at 15 years of age is profoundly retarded and has epilepsy. The younger sister was diagnosed 36h after birth, was treated with strychnine, sodium benzoate and arginine from the neonatal period and at 27 months of age is only moderately retarded and free of seizures. The possible role of strychnine in the improved outcome is discussed.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 146 (1987), S. 221-227 
    ISSN: 1432-1076
    Schlagwort(e): Non-ketotic hyperglycinaemia ; Glycine cleavage enzyme
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstracts Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism characterized by elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The fundamental defect was found to lie in the glycine cleavage system. It is of significance that the major pathway for the catabolism of glycine was elucidated through the studies of hyperglycinaemia. The present knowledge about non-ketotic hyperglycinaemia is described in clinical and biochemical aspects.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    Springer
    Journal of neurology 237 (1990), S. 42-44 
    ISSN: 1432-1459
    Schlagwort(e): Acute autonomic and sensory neuropathy ; Epstein-Barr virus ; Orthostatic hypotension ; Peripheral neuropathy ; l-Threo-2,3.-dihydroxyphenylserine
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary A female patient with acute autonomic and sensory neuropathy is described. Urinary disturbance developed rapidly and was followed by orthostatic syncope, absence of lacrimation, salivation and sweating, and sensory impairment. Muscle strength had been consistently normal despite diffuse muscular atrophy. Marked decrease in the number of small myelinated and unmyelinated fibres was revealed in biopsied sural nerve. Eighteen months after the onset, her autonomic symptoms have partially improved.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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