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  • 1
    Electronic Resource
    Electronic Resource
    Muscle glucose-6-phosphate dehydrogenase deficiency (1989)
    Springer
    Journal of neurology 236 (1989), S. 193-198 
    Details
    ISSN: 1432-1459
    Keywords: Glucose-6-phosphate dehydrogenase ; Myoglobinuria ; Myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, the elder showing moderate exercise intolerance. Histochemical and biochemical studies showed a lack of G6PD activity in muscle biopsy specimens as well as in erythrocytes. G6PD characterization in erythrocytes classified these mutant enzymes as Mediterranean variant in all the patients. The deficiency was confirmed in the patients' myotubes and skin fibroblasts, where residual activity was present. Electrophoretic studies in tissue culture extracts showed that the residual muscle enzyme migrated as a single electrophoretic band like normal human muscle G6PD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314498
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets (1987)
    Springer
    Journal of neurology 235 (1987), S. 74-79 
    Details
    ISSN: 1432-1459
    Keywords: Carnitine palmityl transferase deficiency ; Muscle cultures ; Skin fibroblasts ; Autosomal recessive ; Muscle development
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In a new case of carnitine palmityl transferase (CPT) deficiency the defect was documented in muscle and muscle cultures with an isotope exchange reaction, using different concentrations of palmityl-dl-carnitine and a forward reaction with and without albumin. The defect was expressed in cultured skin fibroblasts only by the “reverse” and “hydroxamate” reactions. The parents and the patient's daughter had intermediate levels of the enzyme in platelets and fibroblasts, supporting the concept that CPT deficiency has an autosomal recessive pattern of inheritance. The growth pattern and development of muscle cultures in this CPT-deficient patient indicate that CPT activity may be sufficient to allow normal muscle differentiation in culture without lipid storage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00718013
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Normal muscle mitochondrial function in Ramsay-Hunt syndrome (1989)
    Springer
    Neurological sciences 10 (1989), S. 73-75 
    Details
    ISSN: 1590-3478
    Keywords: Ramsay-Hunt syndrome ; mitochondrial encephalopathies ; MERRF
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Le encefalomiopatie mitocondriali possono presentare caratteristiche cliniche simili alla sindrome di Ramsay-Hunt (SRH). Abbiamo studiato la funzione mitocondriale muscolare in 2 pazienti con SRH. Lo studio ultrastrutturale, istochimico e biochimico eseguito su materiale muscolare ottenuto tramite biopsia del tricipite è risultato normale. Non sembra perciò esistere evidenza di un disturbo mitocondriale muscolare nella SRH.
    Notes: Abstract Mitochondrial encephalomyopathies may dispaly clinical features similar to Ramsay-Hunt syndrome (RHS). We studied muscles mitochondrial function in 2 patients with RHS. Histochemical and ultrastructural studies of muscle biopsies and biochemical analysis of muscle mitochondrial enzymes were normal. There is no evidence for a disturbance of muscle mitochondrial function in RHS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02333875
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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