| |  Online resource |
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| Verfasst von: | Prietsch, Viola [VerfasserIn]  |
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| | Peters, Verena [VerfasserIn] |
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| | Hackler, R. [VerfasserIn] |
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| | Jakobi, R. [VerfasserIn] |
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| | Assmann, Birgit [VerfasserIn] |
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| | Fang-Hoffmann, Junmin [VerfasserIn] |
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| | Körner, Christian [VerfasserIn] |
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| | Helwig-Rolig, Angelika [VerfasserIn] |
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| | Schaefer, J. R. [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| Titel: | A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy |
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| Verf.angabe: | V. Prietsch, V. Peters, R. Hackler, R. Jakobi, B. Assmann, J. Fang, C. Körner, A. Helwig-Rolig, J.R. Schaefer, G.F. Hoffmann |
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| E-Jahr: | 2002 |
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| Jahr: | 01 May 2002 |
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| Umfang: | 5 S. |
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| Fussnoten: | Gesehen am 31.03.2022 |
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| Titel Quelle: | Enthalten in: Journal of inherited metabolic disease |
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| Ort Quelle: | Hoboken, NJ : Wiley, 1978 |
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| Jahr Quelle: | 2002 |
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| Band/Heft Quelle: | 25(2002), 2, Seite 126-130 |
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| ISSN Quelle: | 1573-2665 |
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| Abstract: | We report the clinical findings and the diagnostic work-up of a 17-month-old girl with CDG-x. Predominant clinical signs were, besides psychomotor retardation and truncal hypotonia, stereotyped dystonic hand movements and ophthalmological abnormalities such as optic atrophy, nystagmus and strabismus. Other symptoms that are often found in patients with CDG were not present, such as seizures, microcephaly, cerebellar hypoplasia, dysmorphic features, hepatointestinal disease, coagulopathy or multiorgan involvement. Isoelectric focusing (IEF) of the patient's serum showed a marked elevation of disialotransferrin, thus confirming an IEF type 1 pattern. A generalized glycosylation defect was confirmed also by IEF of a further glycoprotein (α1-antitrypsin), an increased carbohydrate deficient transferrin (CDT) serum concentration and an increased CDT/transferrin ratio. All known types of CDG-I, secondary glycosylation abnormalities and variants of amino acid sequence were excluded. |
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| DOI: | doi:10.1023/A:1015628810892 |
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| URL: | Bibliographic entry. University members only receive access to full-texts for open access or licensed publications.
Volltext ; Verlag: https://doi.org/10.1023/A:1015628810892 |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1023/A%3A1015628810892 |
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| | DOI: https://doi.org/10.1023/A:1015628810892 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 179714376X |
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| Verknüpfungen: | → Journal |
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¬A¬ new case of CDG-x with stereotyped dystonic hand movements and optic atrophy / Prietsch, Viola [VerfasserIn]; 01 May 2002 (Online-Ressource)
