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  • Artikel: DFG Deutsche Nationallizenzen  (3)
  • Age-dependent decrease of motoneuron  (1)
  • Cytochrome c oxidase
  • Medium-chain acyl-CoA dehydrogenase deficiency
Datenquelle
  • Artikel: DFG Deutsche Nationallizenzen  (3)
Materialart
Erscheinungszeitraum
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Experimental brain research 35 (1979), S. 287-293 
    ISSN: 1432-1106
    Schlagwort(e): Bilateral motoneuron innervation ; Age-dependent decrease of motoneuron ; Rat spinal cord ; Horseradish peroxidase
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Horseradish peroxidase was injected into the biceps brachii muscle of rats at various stages of development, from 10 days to 50 weeks. The retrogradely labeled neurons were found in the ipsilateral ventro-lateral column of the cervical cord, C4–C8, of all stages studied, but the number of labeled neurons decreased according to exponential curve as the age advanced. A striking finding was that the contralateral ventral horn cells were also labeled in the 10- and 14-day-old rats.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1432-0533
    Schlagwort(e): Mitochondrial myopathy ; Cytochrome c oxidase ; Mosaicism of mitochondria ; Electron microscopic histochemistry
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Electron microscopic histochemistry was applied to the study of cytochrome c oxidase activity in each mitochondrion of biopsied muscles from four patients with mitochondrial myopathy [one case of fatal infantile mitochondrial myopathy, one case of myoclonus epilepsy associated with ragged-red fibers (MERRF), and two cases of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)]. In the patient with fatal infantile mitochondrial myopathy, intercellular heterogeneity of mitochondria was recognized. In the three patients with either MERRF or MELAS, cytochrome c oxidase activity was segmentally changed from positive to negative within single muscle fibers. In the two patients with MELAS, small groups of positive-stained mitochondria were located among negative-stained mitochondria in the negative segment of a few muscle fibers. These findings revealed that there were heterogeneous populations of normal and abnormal mitochondria intracellularly or intercellularly within the muscles of these patients.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 151 (1992), S. 154-159 
    ISSN: 1432-1076
    Schlagwort(e): Medium-chain acyl-CoA dehydrogenase deficiency ; Sudden infant death ; Reye syndrome ; Mass screening ; DNA diagnosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians. Patients with this type of mutation have a variety of symptoms, indicating that the clinical heterogeneity of MCAD deficiency may not be caused entirely by genetic heterogeneity. Screening for the mutation among newborns in England, Australia, and United States of America indicates the prevalence of carriers to be 1 in 40–107, suggesting the high incidence of the mutation. Since presymptomatic diagnosis and appropriate dietary management are important in MCAD deficiency to prevent life-threatening complications, the relatively high incidence of this disorder may warrant population screening. The most common MCAD mutation can now be detected by DNA diagnostic methods using Guthrie cards. This makes it possible to screen a population efficiently for this potentially fatal disorder.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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