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  • 1
    Electronic Resource
    Electronic Resource
    An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 428-432 
    Details
    ISSN: 1432-1076
    Keywords: Marfan ; NADH-coenzyme Q reductase ; Lactic acidosis ; Respiratory chain ; Mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955904
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Fatal combined defects in mitochondrial multienzyme complexes in two siblings (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 347-352 
    Details
    ISSN: 1432-1076
    Keywords: Multiple respiratory chain defects ; Skin fibroblasts ; Pyruvate dehydrogenase complex
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A female child suffering from intrauterine growth retardation was born by caesarean section at 32 weeks. In the immediate newborn period there was a metabolic acidosis but this resolved. Hypotonia, muscular weakness and poor respiratory effort were evident and the child died at 6 days of age. A previous male sibling had died at 3 months of age after similar symptoms with seizures and a dysmyelination disorder. Post-mortem examination of both children showed damage to the basal ganglia. Defects in the activities of the pyruvate dehydrogenase complex, cytochrome oxidase and succinate cytochrome c reductase were found in cultured skin fibroblasts. Similar defects were found in isolated muscle mitochondria but not in isolated liver mitochondria from the patient. Immunoblotting for cytochrome oxidase showed that the multienzyme complex was not assembled in muscle and skin fibroblast mitochondria, but was assembled in liver mitochondria. Similar results were obtained in cultured skin fibroblast mitochondria for complex I of the mitochondrial respiratory chain. This is the first occasion that multiple defects have been demonstrated both in tissue and in culture skin fibroblasts in mitochondrial respiratory chain complexes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02113256
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 445-450 
    Details
    ISSN: 1432-1076
    Keywords: Lacticacidaemia ; Pyruvate dehydrogenase deficiency ; Protein polymorphism ; Developmental abnormalities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In three infants with neonatal lacticacidaemia, a deficiency in the E1 (pyruvate dehydrogenase) component of the pyruvate dehydrogenase complex was demonstrated in skin fibroblast cultures. Residual activites of the pyruvate dehydrogenase complex in the activated state were 1.6%, 3.9% and 18.8% of control values, respectively. Immunoprecipitation of extracts of cultures skin fibroblasts grown on 35S-methionine with anti-pyruvate dehydrogenase complex antibody revealed an abnormality in the E1α-component of these three patients when visualised after sodium dodecyl sulphate/polyacrylamide gel electrophoresis. This component appeared to have a slightly lower molecular weight than did this protein from control cell strains. Cell strains from other patients with a deficiency of the pyruvate dehydrogenase complex did not exhibit this defect. Three patients also showed dysmorphism and developmental abnormalities of the central nervous system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441736
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Selective killing of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts (1992)
    Springer
    Journal of inherited metabolic disease 15 (1992), S. 943-944 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800243
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    Paper (German National Licenses)
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