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  • 1
    Electronic Resource
    Electronic Resource
    Polyfunctional Aliphatic Compounds. II.1 The Cyclization of Dinitriles by Anhydrous Halogen Acids. Pyridines (1962)
    s.l. : American Chemical Society
    The @journal of organic chemistry 27 (1962), S. 2473-2478 
    Details
    ISSN: 1520-6904
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/jo01054a044
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Homogeneous Asymmetric Catalysis (1966)
    s.l. : American Chemical Society
    Journal of the American Chemical Society 88 (1966), S. 3666-3667 
    Details
    ISSN: 1520-5126
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/ja00967a049
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Esthesioneuroblastoma: Ultrastructural, immunohistological and biochemical investigation of one case (1984)
    Springer
    European archives of oto-rhino-laryngology and head & neck 239 (1984), S. 133-144 
    Details
    ISSN: 1434-4726
    Keywords: Esthesioneuroblastoma ; Intermediate filaments ; Secretory granules ; Ultrastructure ; Immunohistology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A case of esthesioneuroblastoma, the pathological diagnosis of which almost always causes great difficulties, was investigated ultrastructurally, biochemically, and immunohistologically, using antibodies against the five known types of intermediate filaments [keratin, vimentin, desmin, glial fibrillary acidic protein (GFAP) and neurofilaments]. The tumour cells did not react with antibodies against any of the five intermediate filament proteins. Ultrastructural investigations showed dense cored secretory granules in the cytoplasm and cell processes. Thus, immunohistology offers by “exclusion” a differential diagnosis to avoid often misdiagnosed tumours (undifferentiated carcinomas, embryonal rhabdomyosarcomas, and malignant lymphomas), since carcinomas react with antikeratin, embryonal rhabdomyosarcomas with antibodies to desmin and malignant lymphomas show immunofluorescence with antibodies to vimentin. The biological behaviour (age distribution, tendency to metastasize), the normal values of biochemical parameters, homovanillic acid and vanilmandelic acid (HVA, VMA), and the absence of neurofilaments distinguish this type of tumour from the peripheral sympathetic neuroblastoma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00463554
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  • 4
    Electronic Resource
    Electronic Resource
    The surface to volume ratio of mitochondria, a suitable parameter for evaluating mitochondrial swelling (1990)
    Springer
    Virchows Archiv 416 (1990), S. 305-315 
    Details
    ISSN: 1432-2307
    Keywords: Myocardial ultrastructure ; Mitochondrial swelling ; Stereology ; Correlations of structural parameters ; Cardiac arrest and global ischaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Cellular changes occuring in the left ventricular myocardium during ischaemia after different methods of cardiac arrest have been evaluated by morphological and morphometric parameters: volume densities of mitochondria (VVMi), sarcoplasm (VVSp), myofibrils (VVMf), surface densities of mitochondria (SVMi). The surface to volume ratio of mitochondria (SVratioMi) has been used as an independent parameter of mitochondrial swelling. Since ischaemic swelling of myocardial cells increases the volume of the reference space and ischaemic swelling of mitochondria decreases the free sarcoplasm, VVMi and VVSp cannot be considered as reliable indicators of the degree of oedema. SVMi/VVMf remains nearly constant after different forms of cardiac arrest, demonstrating the integrity of mitochondrial outer membranes. The inverse linear ratio between SVratioMi and the mean mitochondrial volume indicates that the increase in mitochondrial volume is achieved by surface smoothing. Loss of matrix structure and fragmentation of cristae occur at an SVratioMi of about 5.8, cristolysis at 5.5 to 5.6 and amorphous matrix densities at an SVratioMi of less than 5.5 μm2/μm3. The SVratioMi is a suitable parameter for evaluating mitochondrial swelling both at the onset and during global myocardial ischaemia, independent of the method of cardiac arrest used. It serves as an indicator of the state of structural preservation of mitochondria during ischaemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01605291
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  • 5
    Electronic Resource
    Electronic Resource
    Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 194-197 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Adrenoleukodystrophy (ALD), an X-linked inherited metabolic disorder, is the most frequent inborn peroxisomal disease. It leads to demyelination in the central and peripheral nervous system. Defective β-oxidation of saturated very long chain fatty acids (VLCFAs; C22:0–C26:0) in peroxisomes has been shown to lead to an accumulation of VLCFAs in leukoid areas of the central nervous system, peripheral nerves, adrenal gland, and blood. The ALD gene has been recently identified and encodes a 745-amino-acid protein. We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/ AMN) from 20 kindreds for mutations in the ALD gene. Eleven missense and two nonsense mutations, five deletions, and one insertion were detected by direct sequencing of eight reverse transcribed fragments of the ALD-gene mRNA. Four mutations could be shown to be de novo. All mutations could be confirmed in carriers by sequencing genomic DNA. No correlation between the type of mutation and the severity of the phenotype could be observed. The mutations were not detected in the ALD gene of 30 healthy persons.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265264
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  • 6
    Electronic Resource
    Electronic Resource
    Effect of age on homovanillic and 4-hydroxy-3-methoxymandelic acid levels in plasma (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 555-557 
    Details
    ISSN: 1432-1076
    Keywords: Homovanillic acid ; 4-hydroxy-3-methoxymandelic acid ; Catecholamine acidic metabolites ; Plasma ; Mass fragmentography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The plasma levels of homovanillic and 4-hydroxy-3-methoxymandelic acids have been determined in 524 normal subjects ranging from birth to 49 years of age using a mass fragmentographic method. The mean concentration of homovanillic acid in plasma declines exponentially from the age of 1 day (x=2342.0 nmol/l, 426.6 ng/ml) to adulthood (x=60 nmol/l, 10.9 ng/ml). 4-Hydroxy-3-methoxymandelic acid behaves in a similar although not so extreme manner (392 nmol/l, 77.6 ng/ml–50 nmol/l, 10 ng/ml).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429064
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  • 7
    Electronic Resource
    Electronic Resource
    Glyceroltrioleate/glyceroltrierucate therapy in 16 patients with X-chromosomal adrenoleukodystrophy/ adrenomyeloneuropathy: effect on clinical, biochemical and neurophysiological parameters (1994)
    Springer
    European journal of pediatrics 154 (1994), S. 64-70 
    Details
    ISSN: 1432-1076
    Keywords: Key words     X-chromosomal adrenoleukodystrophy ; Adrenomyeloneuropathy ; Very long-chain fatty acids ; Therapy ; Peroxisomal disorder
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      We have investigated the effect of glyceroltrioleate/glyceroltrierucate (GTO/GTE) therapy on X-chromosomal adrenoleukodystrophy in 16 patients with adrenoleukodystrophy (n = 6), adrenomyeloneuropathy (n = 3), Addison disease without neurological involvement (n = 2), and neurologically and endocrinologically asymptomatic patients (n = 5). Therapy was carried out for 19.4 ± 10 months. All patients showed a normalization of C 26:0 plasma fatty acid concentrations. None of the seven neurologically asymptomatic patients developed neurological symptoms. Somatosensory evoked potentials of the tibialis nerve was the most sensitive electrophysiological parameter, showing a slight improvement in neurologically asymptomatic patients during therapy. In none of the patients with normal cranial MRI at start of therapy (n = 6) has MRI deterioration been observed whilst on therapy. Follow up of the neurologically asymptomatic children supports the hypothesis that GTO/GTE therapy might prevent the development of neurological symptoms. Six of the nine neurologically symptomatic patients deteriorated to varying degrees whilst on therapy. MRI alterations have worsened in all patients with clinical deterioration. Conclusion     GTO/GTE treatment should be initiated in all neurological asymptomatic boys before first neurological symptoms develop. To discover these patients very long-chain fatty acid determination should be performed in all family members at risk when adrenoleukodystrophy or adrenomyeloneuropathy is diagnosed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01972976
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  • 8
    Electronic Resource
    Electronic Resource
    Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia (1989)
    Springer
    European journal of pediatrics 148 (1989), S. 543-547 
    Details
    ISSN: 1432-1076
    Keywords: Pyruvate dehydrogenase deficiency ; Hyperammonaemia ; Peritoneal dialysis ; Lipoic acid ; Plasma amino acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 2-day-old girl developed a severe lactic acidosis with a normal lactate/pyruvate ratio and hyperammonaemia. Plasma arginine and citrulline levels were below the limit of detection. In muscle total pyruvate dehydrogenase complex (PDHC) and pyruvate decarboxylase (E1) activities were reduced to a fraction of lower control values. The acute neonatal period was bridged with peritoneal dialysis, dichloroacetate therapy, supplements of arginine and branched chain amino acids, a complete vitamin B complex and lipoic acid. Lactate homeostasis responded to pharmacological supplements of lipoic acid. At age 1 year the child was hypotonic, showed severe developmental retardation, optic atrophy and cranial dysmorphism. She died aged 1 year 8 months with signs of respiratory paralysis but with normal lactate levels under assisted breathing. Pathological findings at autopsy were suggestive of Leigh syndrome, interstitial pneumonia and extensive fatty infiltration of hepatocytes. Regression analysis of data from 187 plasma amino acid determinations from the patient over a period of 1 year 8 months revealed a persistent imbalance involving alanine, glutamic acid, glutamine, proline, citrulline and branched chain amino acids. Aspects of acute and long-term therapy in this patient and some implications of the imbalances in plasma amino acids are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441554
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  • 9
    Electronic Resource
    Electronic Resource
    Failure of beta interferon therapy in X-linked adrenoleukodystrophy (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 833-833 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02002922
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    Paper (German National Licenses)
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  • 10
    Electronic Resource
    Electronic Resource
    Failure of beta interferon therapy in X-linked adrenoleukodystrophy (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 833-833 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02002922
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    Paper (German National Licenses)
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