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  • Articles: DFG German National Licenses  (3)
  • 1990-1994  (1)
  • 1985-1989  (2)
  • Non-ketotic hyperglycinaemia  (2)
  • Endoscopic retrograde cholangiopancreatography  (1)
Source
  • Articles: DFG German National Licenses  (3)
Material
Years
  • 1990-1994  (1)
  • 1985-1989  (2)
Year
  • 1
    ISSN: 1432-1076
    Keywords: Non-ketotic hyperglycinaemia ; Strychnine ; Glycine cleavage system
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 146 (1987), S. 221-227 
    ISSN: 1432-1076
    Keywords: Non-ketotic hyperglycinaemia ; Glycine cleavage enzyme
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 150 (1991), S. 852-853 
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; Pancreatitis ; Endoscopic retrograde cholangiopancreatography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of chronic pancreatitis in an 8-year-old boy with glycogen storage disease type 1a (GSD 1a) is presented. This patient had a history of hyperlipidaemia unresponsive to dietary therapy, e.g., a carbohydraterich diet, uncooked cornstarch, and nocturnal intragastric tube feedings. He had recently suffered bouts of abdominal pain and diarrhoea. Serum amylase and trypsin were elevated, abdominal CT revealed the presence of a pseudocyst of the pancreas. The presence of chronic pancreatitis was confirmed by endoscopic retrograde cholangiopancreatography and an infected pseudocyst was removed at laparotomy.
    Type of Medium: Electronic Resource
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