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  • 1990-1994  (1)
  • 1985-1989  (4)
  • Non-ketotic hyperglycinaemia  (2)
  • Aminoacidaemia  (1)
  • BCG infection  (1)
  • Endoscopic retrograde cholangiopancreatography  (1)
Datenquelle
Materialart
Erscheinungszeitraum
  • 1990-1994  (1)
  • 1985-1989  (4)
Jahr
Schlagwörter
  • 1
    Digitale Medien
    Digitale Medien
    Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 267-270 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF00439398
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Non-ketotic hyperglycinaemia: clinical and biochemical aspects (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 221-227 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF00716464
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 267-269 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Valproic acid ; Hyperammonaemia ; Aminoacidaemia ; Mitochondrial dysfunction
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Serum amino acid pattern, blood ammonia, and serum valproic acid (VPA) levels were estimated in 75 epileptic children with and without VPA therapy. The incidence of patients with hyperammonaemia (〉60 μmol/l) in patients treated with only VPA or with a combination of VPA and other antiepileptic drugs was 19% and 20% respectively. Hyperammonaemia was not observed in patients receiving other drugs. Elevated levels of serum glycine, alanine and serine were more common in epileptic patients treated with VPA alone and with VPA in combination with other drugs than in patients receiving other drugs. A significant positive correlation was found between the serum levels of glycine and alanine, of glycine and serine, and of serine and alanine. These findings may indicate a mitochondrial dysfunction caused by VPA.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00441418
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    Successful transplantation of soy bean agglutinin-fractionated, histoincompatible, maternal marrow in a patient with severe combined immunodeficiency and BCG infection (1985)
    Springer
    European journal of pediatrics 143 (1985), S. 291-294 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Severe combined immunodeficiency ; HLA-haplotype mismatched bone marrow transplantation ; Soy bean agglutinin ; BCG infection
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A successful transplantation of soybean agglutinin (SBA) and sheep red blood cell (SRBC)-fractionated, maternal marrow in a patient with severe combined immunodeficiency (SCID) is reported. The engraftment of HLA-haplotype mismatched marrow cells was obtained without apparent graft versus host disease (GVHD). With immunological reconstituion the patient recovered from a BCG infection, which might have been caused by a BCG inoculation before his bone marrow transplantation.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00442303
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 5
    Digitale Medien
    Digitale Medien
    Chronic pancreatitis in a child with glycogen storage disease type 1 (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 852-853 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Glycogen storage disease ; Pancreatitis ; Endoscopic retrograde cholangiopancreatography
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01955007
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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