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  • 1
    Electronic Resource
    Electronic Resource
    Mitochondrial encephalomyopathy (1987)
    Springer
    Acta neuropathologica 74 (1987), S. 287-293 
    Details
    ISSN: 1432-0533
    Keywords: Mitochondrial encephalomyopathy ; Lactic acidosis ; Stroke-like episodes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report the clinical and autopsy findings in a young man of 18 with a chronic progressive disorder comprised of lactic acidosis, mental deterioration, and epileptic seizures which were sometimes accompanied by stroke-like episodes with transient hemiparesis and cortical blindness. He died of congestive heart failure. The autopsy showed lesions of the gray matter of the brain. Both the putamen and parieto-occipital cortex showed loss of neurons and proliferation of macrophages, astrocytes and vessels. There was marked loss of neurons in the inferior olives, and slight reduction of the number of Purkinje cells. Skeletal muscle studies revealed ragged-red fibres and structurally abnormal mitochondria. The heart was enlarged: accumulations of mitochondria occurred in the muscle fibers. The liver exhibited marked fatty degeneration. Biochemical analyses showed normal activities of pyruvate dehydrogenase in thrombocytes, pyruvate carboxylase in lymphocytes, biotinidase in serum as well as succinate dehydrogenase and cytochrome c oxidase. The features of this disorder differ in many respects from cases of mitochondrial encephalomyopathy previously reported and cannot be assigned to any specific disease entity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688194
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  • 2
    Electronic Resource
    Electronic Resource
    Cytochromec oxidase deficiency in infancy (1989)
    Springer
    Acta neuropathologica 77 (1989), S. 267-275 
    Details
    ISSN: 1432-0533
    Keywords: Mitochondrial myopathy ; Respiratory chain enzyme ; Enzyme-histochemistry ; Cytochromec oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Five children with early onset of muscle weakness, lactic acidosis and deficient cytochromec oxidase staining in the muscle biopsy were studied. By oximetric assay of the respiratory chain of isolated mitochondria, cytochromec oxidase deficiency was confirmed in four of the cases, while one case showed only a slight decrease of cytochromec oxidase activity but considerably reduced activity when assayed spectrophotometrically. The muscle biopsies exhibited mitochondrial structural abnormalities and lipid storage in the four cases with oximetrically confirmed cytochromec oxidase deficiency, while the biopsy of the case with markedly reduced activity of cytochromec oxidase only in the enzyme-histochemical and spectrophotometrical assays had normal morphology. The light microscopical staining of cytochromec oxidase in the four cases with oximetrically confirmed deficiency showed deficient staining of the enzyme in all extrafusal fibres in three cases but one of the cases had normal enzyme-histochemical activity of cytochromec oxidase in about 25% of the fibres. In two cases muscle spindles were included in the biopsy. The intrafusal fibres showed normal enzyme-histochemical activity of cytochromec oxidase. Ultrastructural examination of the enzyme distribution in two of the cases revealed great heterogeneity of the mitochondria. The structurally abnormal mitochondria were usually deficient of enzyme activity. The mitochondria of endothelial cells appeared to have normal activity. Immunohistochemical staining with polyclonal antibodies to cytochromec oxidase revealed presence of immunoreactive material corresponding to the localisation of mitochondria in all cases. The results show that enzyme-histochemical staining of cytochromec oxidase is a useful technique to reveal deficiency of the enzyme and to study the distribution of the deficiency within the tissue both at the light microscopical and ultrastructural levels. However, the results of one of the cases show that deficiency revealed by the enzyme-histochemical technique is not completely reliable. Oximetric studies on isolated mitochondria are necessary to confirm the suspected deficiency and to reveal combined defects of the respiratory chain.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687578
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  • 3
    Electronic Resource
    Electronic Resource
    Neuropathology in Kearns-Sayre syndrome (1990)
    Springer
    Acta neuropathologica 80 (1990), S. 541-546 
    Details
    ISSN: 1432-0533
    Keywords: Mitochondria ; Central nervous system ; Skeletal muscle ; Pathology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The neuropathological changes found at autopsy in a case of Kearns-Sayre syndrome are described. We have previously analyzed the respiratory chain function in isolated muscle mitochondria and also described a large deletion of muscle mitochondrial DNA (mtDNA) in this case. The neuropathological examination revealed prominent neuronal degeneration and gliosis of the basal ganglia and there were bilateral areas of softening and total loss of nerve cells in the lenticular nuclei. The pallidum and caudate nucleus disclosed accumulation of iron-containing pigment. The white matter in the cerebrum, brain stem and cerebellum showed widespread and focally accentuated spongy change due to splitting of myclin lamellae. It is suggested that deficiency of respiratory chain enzymes due to the mtDNA deletion is of pathogenetic importance in the development of the described changes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294616
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  • 4
    Electronic Resource
    Electronic Resource
    Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 269-273 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres were present. Polarographic and enzymatic measurements on isolated muscle mitochondria revealed a profound isolated complex I deficiency. A high percentage of mutant mtDNA was found in muscle (94%), fibroblasts (93%), brain (90%), liver (80%), and heart (79%). The family was not available for investigation. For genotype to phenotype correlation studies, we investigated the proportion of mutated mtDNA in single muscle fibres of normal appearance and muscle fibres with accumulations of mitochondria. The proportion of mutant mtDNA was 28% (range 〈 0.3%–86%) in normal-appearing fibres and 61% (range 15%–88%) in abnormal fibres. The difference in the proportion of mutant mtDNA was highly significant (P 〈 0.001) between the two groups of fibres.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02185750
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  • 5
    Electronic Resource
    Electronic Resource
    Quantitation of human C4A and C4B, in serum and plasma by enzyme-linked immunoadsorbent assay (1988)
    Springer
    Immunogenetics 27 (1988), S. 295-297 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00376126
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  • 6
    Electronic Resource
    Electronic Resource
    Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency (2000)
    Springer
    European journal of pediatrics 159 (2000), S. 18-22 
    Details
    ISSN: 1432-1076
    Keywords: Key words Biotin ; Holocarboxylase synthetase ; Multiple carboxylase deficiency ; Splice error
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Holocarboxylase synthetase (HCS) deficiency is a disorder of biotin metabolism characterised by metabolic ketoacidosis and skin lesions due to reduced activities of multiple biotin-dependent carboxylases. The onset of this disease is usually between the neonatal and infantile period. Here we report the molecular analysis of an atypical case of HCS deficiency, where the patient developed his first episode of acidosis at age 8 years and had an exceptionally slow response to biotin therapy. A homozygous mutation was identified at the +5 position of the splice donor site in intron 10 of the HCS gene (IVs10 + 5(g → a)), resulting in abnormal splicing of HCS mRNA. A moderate decrease in the amount of normal HCS mRNA may account for the atypical, late-onset phenotype of this patient. Conclusion Molecular analysis is a useful tool for understanding the phenotypic variations in holocarboxylase synthetase deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050004
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  • 7
    Electronic Resource
    Electronic Resource
    Uncoupling in the γ-butyrobetaine hydroxylase reaction by D- and L-carnitine
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 107 (1982), S. 518-524 
    Details
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0006-291X(82)91522-4
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  • 8
    Electronic Resource
    Electronic Resource
    Low Levels of Mitochondrial Transcription Factor A in Mitochondrial DNA Depletion
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 200 (1994), S. 1374-1381 
    Details
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/bbrc.1994.1603
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  • 9
    Electronic Resource
    Electronic Resource
    Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease 1226 (1994), S. 49-55 
    Details
    ISSN: 0925-4439
    Keywords: Mitochondria ; Myopathy ; encephalomyopathy ; mtDNA ; tRNA
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0925-4439(94)90058-2
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  • 10
    Electronic Resource
    Electronic Resource
    Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease 1180 (1992), S. 65-72 
    Details
    ISSN: 0925-4439
    Keywords: COS-7 cell ; EBV-based expression vector ; G985 MCAD mutation ; Protein instability ; Subcellular location
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0925-4439(92)90028-L
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