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  • 1
    Electronic Resource
    Electronic Resource
    Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study (1996)
    Springer
    Child's nervous system 12 (1996), S. 699-704 
    Details
    ISSN: 1433-0350
    Keywords: Saethre-Chotzen syndrome ; EEG ; Seizures ; CT scan ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations. Our findings suggest that CNS involvement in Saethre-Chotzen syndrome might be more severe than previously reported and support the wider use of neurophysiological and neuroimaging techniques in the study of children with this syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00366154
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Characterization of a family with moderate hypercholesterolemia and binding defective low density lipoprotein (1992)
    Springer
    European journal of epidemiology 8 (1992), S. 26-32 
    Details
    ISSN: 1573-7284
    Keywords: ApoB ; Hypercholesterolemia ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Familial defective apolipoprotein B-100 (FDB) is a genetic disorder presenting with hypercholesterolemia and abnormal low density lipoprotein (LDL) that binds poorly to LDL receptors. This disease appears to be caused by a mutation in the apo B gene. In the present study thirteen members of a family with moderate hypercholesterolemia (250–350 mg/dl) were investigated. Biochemical studies on cultured skin fibroblasts ruled out classical familial hypercholesterolemia (receptor deficiency). LDL from nine affected members displayed, in an “in vitro” cell binding assay, a reduced affinity (2.5 fold) for the receptor, and had normal electrophoretic mobility, size and chemical composition. Lp(a) levels in family members were comparable to those present in normolipidemics and lower than those observed in primary hypercholesterolemia. The disorder is transmitted over three generations as an autosomal codominant trait and all the affected members are heterozygotes and hypercholesterolemic.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00145346
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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