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  • 1980-1984  (10)
  • 1950-1954  (4)
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Year
  • 1
    Electronic Resource
    Electronic Resource
    Arylsulphatase B studies in skin fibroblasts from patients with Maroteaux-Lamy syndrome with special reference to electrophoretic mobility and prenatal diagnosis (1980)
    Springer
    Journal of inherited metabolic disease 3 (1980), S. 99-100 
    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/BF02312540
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease (1981)
    Springer
    Journal of inherited metabolic disease 4 (1981), S. 225-228 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 2-year-old boy excreted massive amounts of formiminoglutamic acid in urine. The substance was identified as authentic formiminoglutamic acid by two-dimensional thin-layer chromatography, column chromatography and enzymatic determination. After alkaline hydrolysis the substance was converted to glutamic acid. Serum amino acid concentrations were normal. The patient had normal serum and erythrocyte folate levels. The red blood cell picture was normal. The leukocytes showed slight hypersegmentation. From the age of 3 months he exhibited recurrent otitis media and severe pulmonary infections. He had a peculiar narrow-headed look and marked universal hypotonia. The mental development was slightly retarded. Glutamate formiminotransferase deficiency is postulated. The findings lend support to the theory of glutamate formiminotransferase deficiency being a rather benign disorder of metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02263657
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia (1980)
    Springer
    Journal of inherited metabolic disease 3 (1980), S. 63-66 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 1-year-old boy with a typical B12-responsive form of methylmalonic acidaemia was hospitalized twice due to acute bacterial infections. On both occasions, the child was lethargic with a severe ketoacidosis on admission. Intensive therapy with protein restriction, intravenous administration of electrolytes and antibiotics was effective within 4 days on both occasions. The urinary excretion of organic acids showed the same pattern on both occasions. There were rising excretion concentrations, reaching a peak value within the first 24-hour period, for the following compounds: 3-hydroxybutyric acid, 3-hydroxypropionic acid, 3-hydroxyisobutyric acid and 3-hydroxyisovaleric acid. Excretion concentrations of the following rose for 48 h: isobutyric acid, 2-methylbutyric acid, isovaleric acid, lactic acid and the 2-oxo-acids. There was no increase until 12–24 h after the onset of severe illness in the excretion of propionic acid and methylmalonic acid. Propionic acid excretion was maximal at about 48 h, while peak excretion of methylmalonic acid was delayed until about 72 h after the onset of severe illness; at this time there was clinical improvement. The biochemical implications of this excretion pattern are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02312526
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Citrullinaemia: The possibility of prenatal diagnosis (1980)
    Springer
    Journal of inherited metabolic disease 3 (1980), S. 73-75 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Argininosuccinate synthetase activity in amniotic fluid cells from a fetus at risk for citrullinaemia was low compared to the activity in amniotic fluid cells from a normal fetus, but five times the activity in fibroblasts from a patient with citrullinaemia. These enzyme values indicated a normal or heterozygous fetus. Chromosome analysis of the amniotic fluid cells from the fetus at risk, however, showed an unusual X/20 translocation. As we could not guarantee the delivery of a normal child, the parents chose to have a therapeutic abortion. Argininosuccinate synthetase activity in the liver and kidney of the aborted fetus was in the normal and heterozygous range respectively, confirming the prenatal diagnosis. The activity in the father's fibroblasts was low, less than 10% of normal. The difficulty of interpreting the results of prenatal diagnosis in such a family and the importance of studying parental cells are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02312528
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II (1980)
    Springer
    Journal of inherited metabolic disease 3 (1980), S. 67-72 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3-hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2-methylbutyric acid, adipic acid, caproylglycine, 5-hydroxycaproic acid, caproic acid and butyric acid. The amino acid, sarcosine, was excreted in enhanced amounts and the patient had lactic aciduria, whereas the excretion of 3-hydroxybutyric acid was only moderately increased. This abnormal excretion pattern is consistent with a defect in the metabolism of acyl-CoAs and sarcosine. Normal activity of glutaryl-CoA dehydrogenase was found, excluding glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02312527
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia (1984)
    Springer
    Journal of inherited metabolic disease 7 (1984), S. 49-52 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a mentally retarded boy, who excreted elevated amounts of glycine,d-glyceric acid and acylglycines and whose cells exhibited diminishedd-glycerate dehydrogenase and glycine cleavage activity, investigations have been undertaken aiming at characterizing the relationship betwnen the different accumulations. This was donein vivo by trying in a specific manner to alter in turn the degree of accumulation of each of the three classes of compounds and then monitoring changes in the others. The results suggest, that thed-glyceric acid accumulation is directly caused by the genetic defect, since thed-glyceric acid excretion was not altered by changes in degree of accumulation of either glycine or acylglycines. Similarly alterations in acylglycine excretion caused alterations in glycine but not ind-glyceric acid excretion. Based on these findings a model for the pathogenesis behind the accumulations of acylglycines and glycine is proposed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01805799
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Endoscopic insertion of the celestin tube in patients with esophageal cancer (1982)
    Springer
    World journal of surgery 6 (1982), S. 494-497 
    Details
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Une nouvelle méthode d'insertion de tube oesophagien est proposée. Chez les malades qui présentent des tumeurs oesophagiennes sténosantes inopérables, l'introduction du tube au travers du cancer a pour but de supprimer la dysphagie et la salivation. La technique consiste d'abord à dilater le défilé tumoral par l'appareil de Eder-Puestow puis à introduire correctement le tube sous contrôle endoscopique. 28 malades ont bénéficié de l'introduction d'un tube dit de Célestin. La méthode n'est grevée que de rares complications. Elle représente une alternative aux méthodes chirurgicales d'introduction d'un tube endo-oesophagien.
    Notes: Abstract A new method for inserting endoesophageal tubes is described. In patients with stenosing, inoperable esophageal malignancies, a passage through the neoplastic masses must be secured to avoid dysphagia and salivation. By first dilating the tumor lumen with the Eder-Puestow apparatus and then inserting the correctly cut tube using endoscopic equipment, an operation can be avoided. In 28 patients, a Celestin tube was thus inserted. The method involved only a few complications. It can be recommended as an alternative to existing operative methods for endoesophageal intubation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01657691
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Steady-state, O2-deficit and O2-debt at severe work (1950)
    Springer
    European journal of applied physiology 14 (1950), S. 251-254 
    Details
    ISSN: 1439-6327
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The O2-uptake during running at different speed between 10 and 20 km/hour on a horizontal treadmill has been compared. A straight lined increase in O2-uptake with increasing speed was found. Determinations of O2-deficit and O2-debt showed, however, that the total energy output did not follow that line. At high speed the energy output showed a steep increase. The explanation for this is apparently that at high speed a significant part of energy has to be delivered by anaerobic processes involving low efficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00933842
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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    The efficiency of anaerobical work (1950)
    Springer
    European journal of applied physiology 14 (1950), S. 249-250 
    Details
    ISSN: 1439-6327
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The efficiency of severe work of different length has been studied. The results show that the efficiency of anaerobic work is only 50 p. c. of the efficiency of aerobic work. The consequences as far as professional work and athletic performances are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00933841
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    Paper (German National Licenses)
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  • 10
    Electronic Resource
    Electronic Resource
    Physiology of skiing (1950)
    Springer
    European journal of applied physiology 14 (1950), S. 292-303 
    Details
    ISSN: 1439-6327
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary During skiing a maximum O2-uptake of 5,2l/min was recorded with a trained student as a subject; with two other élite skiers 5 liters O2 per minute was found. A trained female subject showed an O2-intake of 4,17l/min and an other female subject had an O2-intake of 64,5 cc/min/kg body weight, presumably the highest values ever recorded in women. In connection with ski competitions youngsters had often pulse values above 250 beats per minute. The maximum values recorded were as high as 270. Proteinuria occurred practically in all subjects and erythrocytes were found in 28% of the urines of trained skiers after competitions. Skiing is the most economical and fastest way of transportation on snow, but even at a relatively low speed the energy output is high. We want to express our sincere thanks to the Swedish Sport Association (Riksidrottsförbundet) for financial support and to every body who assisted us during the experiments, especially the skiers, who acted as subjects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00933847
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    Paper (German National Licenses)
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