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  • 1
    Digitale Medien
    Digitale Medien
    Mitochondrial phosphoenolpyruvate carboxykinase deficiency (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 46-50 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Phosphoenolpyruvate carboxykinase ; Hypoglycaemia ; Giant cell hepatitis ; Fanconi syndrome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A 3-month-old girl presented with anorexia, failure to thrive and drowsiness. She was mildly icteric with hepatomegaly and peripheral oedema. Disordered liver function tests were associated with the biopsy appearances of a giant cell hepatitis and with a Fanconi syndrome. At the age of 16 weeks she collapsed with profound hypoglycaemia. Fasting also provoked hypoglycaemia with lactic acidaemia. She became increasingly irritable and hypotonic and, although initially liver and renal function improved, she deteriorated and died of hepatocellular failure and septicaemia. A post-mortem revealed massive fatty degeneration of the liver. The activity of phosphoenolpyruvate carboxykinase in her cultured skin fibroblasts was 16% of controls. Her brother died at the age of 4 weeks of sudden infant death syndrome.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00441851
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Pellagra with colitis due to a defect in tryptophan metabolism (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 498-502 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Kynurenine hydroxylase ; Tryptophan metabolism ; Nicotinamide deficiency ; Pellagra ; Colitis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-hydroxy-kynurenine, xanthurenic acid and N1-methyl nicotinamide. These results indicated a defect in the hydroxylation of kynurenine, an important reaction in the synthesis of the nicotinamide nucleotide coenzymes, NAD and NADP, from tryptophan. The patient went on to develop severe colitis and psychological changes. All her symptoms responded to treatment with nicotinamide.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01958432
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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