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  • Case report  (1)
  • Cataract  (1)
  • Celiac disease  (1)
  • Cholesterylester  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Pseudohypoparathyroidism and hypocalcemic “myopathy” (1981)
    Springer
    Journal of molecular medicine 59 (1981), S. 1195-1199 
    Details
    ISSN: 1432-1440
    Keywords: Fallbericht ; Pseudohypoparathyreoidismus ; hypocalcämische Myopathie ; Case report ; Pseudohypoparathyroidism ; Hypocalcemic myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A patient with the clinical features of pseudohypoparathyreoidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.
    Notes: Zusammenfassung Es wird über einen Fall von Pseudohypoparathyreoidismus berichtet, bei dem gleichzeitig erhöhte CPK- und LDH-Konzentrationen im Serum festgestellt wurden, die sich nach Therapie normalisierten. Klinische Zeichen einer Myopathie bestanden nicht. Das Biopsiematerial vom m. tibialis anterior war mikroskopisch unauffällig. Biochemisch fand sich eine verminderte Phosphorylase-a-Aktivität bei normaler Gesamtphosphorylase-Aktivität (a und b). Die Bedeutung des Befundes und die möglichen pathogenetischen Mechanismen werden diskutiert.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01721214
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    The treatment of intractable diarrhea by the method of “Baustein” principle using a casein hydrolisate (1977)
    Springer
    European journal of pediatrics 124 (1977), S. 89-100 
    Details
    ISSN: 1432-1076
    Keywords: Intractable diarrhea ; Celiac disease ; Treatment ; Casein hydrolisate ; Amino acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ten infants with intractable diarrhea, celiac disease and small bowel resection were treated with a special dietetic regimen called “Baustein” principle. The three major food constituents were added to the formula stepwise: first glucose and maltodextrin followed by protein and vegetable oil or MCT oil. The protein source was a newly developed casein hydrolisate also containing minerals, trace elements and vitamins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00477544
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Wolman's disease: Clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 45-53 
    Details
    ISSN: 1432-1076
    Keywords: Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445892
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Cataract in a fetus at risk for oculo-cerebro-renal syndrome (lowe) (1977)
    Springer
    Journal of molecular medicine 55 (1977), S. 141-144 
    Details
    ISSN: 1432-1440
    Keywords: Oculo-cerebro-renales Syndrom (Lowe) ; Katarakt ; Fetus ; Oculo-cerebro-renal syndrome (Lowe) ; Cataract ; Fetus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.
    Notes: Zusammenfassung Bei einer Schwangeren, die bereits einen Jungen mit Lowe-Syndrom hat, wurde eine Amniocentese durchgeführt. Die Schwangerschaft wurde unterbrochen, nachdem sich in den kultivierten Zellen der Amnionflüssigkeit ein männlicher Karyotyp zeigte und damit eine Wahrscheinlichkeit von 50% für die Geburt eines weiteren Kindes mit dieser X-chromosomal rezessiv erblichen Erkrankung bestand. Der männliche Fet bot die für das Lowe-Syndrom charakteristischen Linsentrübungen. Es bestand ein Lenticonus posterior mit Defekt der hinteren Linsenkapsel; die bisher bekannte kleine, discoide Linse des Lowe-Syndroms entsteht somit möglicherweise durch Verlust von Linsenmaterial bei defekter hinterer Linsenkapsel. Die Aminosäurenkonzentrationen im Fruchtwasser waren mit Ausnahme von deutlichen Erhöhungen von Lysin und Prolin normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01490242
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    Paper (German National Licenses)
    Fulltext
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