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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1986), S. 563-566 
    ISSN: 1432-1076
    Keywords: Rett syndrome ; Hyperammonemia ; Multiple carboxylases ; Holocarboxylase synthetase ; Biotinidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglylglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (V max and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Glycogen storage disease ; Glucose-6-phosphatase ; Glucose-6-phosphate translocase ; Debranching enzyme ; Phosphorylase-6-kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A workshop was held on “Aspects of treatment of patients with glycogen storage disease” within the framework of the Concerted Action “Inborn errors of metabolism” of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Archives of gynecology and obstetrics 238 (1985), S. 350-351 
    ISSN: 1432-0711
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Fresenius' Zeitschrift für analytische Chemie 331 (1988), S. 202-204 
    ISSN: 1618-2650
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Summary Zinc and copper metabolism became easier to study after science provided two research ways [1]: Isotope tracer technique and atomic absorption spectroscopy. Using stable isotopes is advantageous in humans because exposure to radioactivity is avoided and therefore the method can be used safely in infants and pregnant women. According to Ehrenkranz et al. [2, 3] zinc absorption in premature infants is 60%. Ziegler and coworkers report a lower absorption of zinc in infants (20%–44%) [8]. The copper intestinal uptake has been reported to be 68% in adults [3, 4]. We have investigated the bioavailability of zinc in a group of premature infants and one term infant weighing 1850 to 5630 g and the copper absorption in a man and an adolescent with M. Wilson (a copper storage disease) and discuss the accurate isotope analysis of human feces in relation to mineral bioavailability studies of premature infants. It is shown that for the determination of bioavailability of zinc and copper, the method of chelate-gas chromatography/mass spectrometry (GC/MS) is valuable for routine application to clinical experiments; the human fecal samples resulting from diet suitably enriched with isotopes68Zn,70Zn or65Cu can be routinely analysed with a precision of about 1% for these stable isotopes [2]. The total zinc in feces was determined by atomic absorption spectroscopy and the70Zn/64Zn ratio by chelate-GC/MS (EI). We have found different absorption values between 3% to 70% for zinc in a group of different infants including twins, triplets and preterms. The copper uptake was determined to be 79.7% and 49.9%.
    Type of Medium: Electronic Resource
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