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  • Electronic Resource  (4)
  • 1980-1984  (3)
  • 1970-1974  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency (1981)
    Springer
    Human genetics 〈Berlin〉 57 (1981), S. 108-110 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Instability of the centromeric regions of chromosomes 1, 9, and 16 in cultured lymphocytes of an 8-month-old girl with malabsorption and combined immunodeficiency is reported. Together with the two previous reports on this condition, the present report seems to confirm the specific association of combined immunodeficiency and centromeric instability of chromosomes 1, 9 and 16 with multibranching.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00271181
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Cerebral gigantism syndrome (1972)
    Springer
    European journal of pediatrics 112 (1972), S. 332-346 
    Details
    ISSN: 1432-1076
    Keywords: Cerebral Gigantism ; Human Growth Hormone ; Psychomotor Retardation ; Growth Acceleration ; Plasma Essential Aminoacids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung An Hand von 4 eigenen Fällen und 76 Fällen aus der Literatur wird eine zusammenfassende Übersicht über das cerebral bedingte Gigantismus-Syndrom gegeben. Das Syndrom hat keine typischen pathognomonischen Zeichen, aber das gleichzeitige Auftreten von Gigantismus mit abnormaler Armlänge, typischer Physiognomie, beschleunigtem Knochenalter und unterschiedlich starker psychomotorischer Retardierung erlauben eine Differentialdiagnose.
    Notes: Abstract The cerebral gigantism syndrome is reviewed; 4 own cases are reported and are analysed together with 76 cases from the literature. Cerebral gigantism has no pathognomic signs but can be separated from other conditions by the simultaneous occurrence of gigantism with abnormally great arm span, a special physionomy, advanced bone age and a variable degree of psychomotor retardation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00438627
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Liver necrosis in the new-born infant: Analysis of some precipitating factors in neonatal care (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 113-119 
    Details
    ISSN: 1432-1076
    Keywords: Infant new-born diseases ; Liver abscess ; Liver circulation ; Tromethamine ; Umbilical veins
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to gain more insight into the factors precipitating liver necrosis in the new-born infant, the clinical and laboratory findings, and the therapeutic regiments were analysed in a group of 13 new-born infants who died with severe liver damage. The data are compared with those of a group of 39 infants with intact livers. Faulty localization of the catheter tip in right or left branch of the portal vein, administration of THAM through the umbilical vein and thrombopenia were significantly related to thrombosis of the umbilical and portal vein and liver necrosis. This demonstrates that some simple precautions can prevent severe liver damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441136
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Carbamyl phosphate synthetase deficiency with lethal neonatal outcome (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 72-75 
    Details
    ISSN: 1432-1076
    Keywords: Carbamyl phosphate synthetase ; Hyperammonaemia ; Newborn
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A neonate with pronounced hyperammonaemia died at the age of 6 days. Absence of liver carbamyl phosphate synthetase activity was demonstrated. This is the eighth reported patient with a severe variant of isolated mitochondrial carbamyl phosphate synthetase deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442085
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    Paper (German National Licenses)
    Fulltext
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