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  • Corticosterone methyl oxidase type II  (1)
  • Gibbs states  (1)
  • Lysinuric protein intolerance  (1)
  • Mitochondrial myopathy  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 437-440 
    Details
    ISSN: 1432-1076
    Keywords: Lysinuric protein intolerance ; Erythroblastophagocytosis ; Interstitial lung disease ; Renal disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients with lysinuric protein intolerance are reported. The first patient displayed severe haemolytic anaemia, bone marrow erythroblastophagocytosis, renal tubular disease and interstitial lung disease. Despite treatment with citrulline and low-protein diet, this child died at the age of 18 months. The second patient is now 24 years old and has chronic interstitial lung disease and focal renal glomerulosclerosis. The third patient, now 5 years old, has severe chronic interstitial lung disease. A 6-month treatment with prednisone was ineffective in the second and third patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955906
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Corticosterone methyl oxidase type II deficiency: a cause of failure to thrive and recurrent dehydration in early infancy (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 170-173 
    Details
    ISSN: 1432-1076
    Keywords: Corticosterone methyl oxidase type II ; Failure to thrive ; Salt wasting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Corticosterone methyl oxidase type II (CMO II) deficiency is an uncommon cause of salt-wasting in infancy. We describe a boy who presented with recurrent dehydration and severe failure to thrive in the first 3 months of life, associated with mild hyponatraemia (serum Na+ 127–132 mEq/l) and hyperkalaemia (serum K+ 5.3–5.9 mEq/l). The diagnosis was suggested by an elevated plasma renin activity (PRA): serum aldosterone ratio, and subsequently confirmed by an elevated serum 18-hydroxycorticosterone: aldosterone ratio. Treatment with 9α-fluorohydroxycortisone normalized growth parameters and PRA levels. CMO II deficiency should be considered in infants with recurrent dehydration and failure to thrive, even when serum sodium and potassium levels are not strikingly abnormal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954376
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    On the Gibbs states for one-dimensional lattice Boson systems with a long-range interaction (1993)
    Springer
    Journal of statistical physics 70 (1993), S. 985-1028 
    Details
    ISSN: 1572-9613
    Keywords: Quantum systems ; Gibbs states
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract We consider an infinite chain of interacting quantum (anharmonic) oscillators. The pair potential for the oscillators at lattice distanced is proportional to {d 2[log(d+1)]F(d)}−1 where ∑ r∈Z [rF(r)]−1 〈 ∞. We prove that for any value of the inverse temperatureβ〉 0 there exists a limiting Gibbs state which is translationally invariant and ergodic. Furthermore, it is analytic in a natural sense. This shows the absence of phase transitions in the systems under consideration for any value of the thermodynamic parameters.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01053604
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Familial megaconial myopathy: A real nosologic entity (1983)
    Springer
    Acta neuropathologica 59 (1983), S. 70-74 
    Details
    ISSN: 1432-0533
    Keywords: Mitochondrial myopathy ; Giant mitochondria ; Familial mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The most prominent ultrastructural feature of muscle tissue in two siblings with a childhood-onset myopathy was the presence of giant mitochondria of up to 4 μm in length. The mitochondria had no tendency to aggregate and kept their normal localization among the myofibrils. Such a megaconial myopathy was first described by Shy and Gonatas (1964), In our family two members had the disease and consanguinity between their parents was present. These data suggest that megaconial myopathy might be a real nosologic entity genetically transmitted as an autosomal recessive trait.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690319
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    Paper (German National Licenses)
    Fulltext
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