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  • 1
    Electronic Resource
    Electronic Resource
    Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins (1981)
    Springer
    Acta neuropathologica 54 (1981), S. 11-17 
    Details
    ISSN: 1432-0533
    Keywords: Connatal Pelizaeus-Merzbacher disease ; Congenital stridor ; X-linked inheritance ; Psychomotor retardation ; Quantified cerebral morphology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease. Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process. The hereditary transmission is most consistent with a sex-linked recessive pattern. Different X-linked signs seem combined in the presented cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691328
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Chronic mild diarrhoea, stunted growth and neuromuscular abnormalities (1978)
    Springer
    European journal of pediatrics 127 (1978), S. 211-217 
    Details
    ISSN: 1432-1076
    Keywords: Diarrhoea ; Dwarfism ; Neuromuscular disease ; Motor end plate ; Mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report describes a 3 year-old girl with signs of ventricular hypertrophy, short stature, and persistent diarrhoea (without steatorrhoea or creatorrhoea) which was resistant to therapy. There was no clinical evidence of myopathy but a myopathic pattern was found on electromyography. Biochemical studies revealed no abnormalities. Routine histological studies of biopsied muscle showed no obvious structural abnormalities. Examination of 1 μm tissue sections revealed groups of atrophic fibers. Electronmicroscopy revealed widened spaces between the myofibrils with disruption of filament arrangement. The mitochondria in the motor end-plates were very distended and almost devoid of cristae.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442063
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Recurrent exertional rhabdomyolysis and stunted growth (1978)
    Springer
    European journal of pediatrics 129 (1978), S. 133-138 
    Details
    ISSN: 1432-1076
    Keywords: Rhabdomyolysis ; Myoglobinuria ; Dwarfism ; Myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he, noted bouts of pigmenturia associated with episodes of considerable malaise. The change in color of the urine was caused by myoglobin. An electromyogram was myopathic. CPK rose during 60 minutes mild exercise. Prolonged moderate exercise could not be performed. Histopathological examination of muscle biopsy revealed an increase in the number of 11 C fibres (20%). Electronmicroscopy revealed the wavy outline of a number of fibres and hypertrophy of sarcoplasmic reticulum elements. No cause for the stunted growth could be detected.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442373
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    Paper (German National Licenses)
    Fulltext
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