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  • 1
    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
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  • 2
    Electronic Resource
    Electronic Resource
    Chichester : Wiley-Blackwell
    Biological Mass Spectrometry 16 (1988), S. 285-288 
    ISSN: 1052-9306
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Organic acidurias are a wide group of inherited metabolic diseases, sometimes with acute neonatal symptoms and life risk in the newborn. The clinical features are often not specific, but the pattern of urinary organic acids is diagnostic. Correct identification of metabolites and timely response are fundamental in this kind of work. Capillary gas chromatography/mass spectrometry (GC/MS) is now the reference method for separation, identification and quantification of organic acids. The analysis of urinary extracts (extraction is described in the text) is routinely carried out on an HP 5988A GC/MS system. Mass spectra are compared with a dedicated library and full spectra retrieved from positive samples. A new and interesting perspective is opened by infrared spectroscopy coupled with capillary GC. The method allows remarkable informations, complementary to mass spectra, on molecular structure. The sensitivity of equipment used for infrared (HP 5965 IRD) permits the use of the same capillary columns and analytical conditions for both GC/MS and GC/Fourier transform infrared. Our preliminary results show that the infrared detector can be used in organic acid analysis and can be useful, too, in identification of unknown metabolites, when mass spectral data are not sufficient.
    Additional Material: 5 Ill.
    Type of Medium: Electronic Resource
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