{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:04:42Z","timestamp":1761717882839},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,5,1]],"date-time":"2002-05-01T00:00:00Z","timestamp":1020211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2002,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the clinical findings and the diagnostic work\u2010up of a 17\u2010month\u2010old girl with CDG\u2010x. 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 (\u03b1<jats:sub>1<\/jats:sub>\u2010antitrypsin), an increased carbohydrate deficient transferrin (CDT) serum concentration and an increased CDT\/transferrin ratio. All known types of CDG\u2010I, secondary glycosylation abnormalities and variants of amino acid sequence were excluded.<\/jats:p>","DOI":"10.1023\/a:1015628810892","type":"journal-article","created":{"date-parts":[[2003,3,15]],"date-time":"2003-03-15T13:06:09Z","timestamp":1047733569000},"page":"126-130","source":"Crossref","is-referenced-by-count":23,"title":["A new case of CDG\u2010x with stereotyped dystonic hand movements and optic atrophy"],"prefix":"10.1002","volume":"25","author":[{"given":"V.","family":"Prietsch","sequence":"first","affiliation":[{"name":"Sektion f\u00fcr Metabolische und Endokrinologische Erkrankungen Universit\u00e4ts\u2010Kinderklinik  Heidelberg"},{"name":"Universit\u00e4ts\u2010Kinderklinik  Im Neuenheimer Feld 150 Heidelberg 69120 Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Peters","sequence":"additional","affiliation":[{"name":"Sektion f\u00fcr Metabolische und Endokrinologische Erkrankungen Universit\u00e4ts\u2010Kinderklinik  Heidelberg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Hackler","sequence":"additional","affiliation":[{"name":"Zentrum Innere Medizin, Abt. Kardiologie, AG Pr\u00e4ventive Kardiologie Philipps\u2010Universit\u00e4t  Marburg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Jakobi","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Kinder\u2010 und Jugendmedizin Klinikum Offenbach  Offenbach"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Assmann","sequence":"additional","affiliation":[{"name":"Sektion f\u00fcr Metabolische und Endokrinologische Erkrankungen Universit\u00e4ts\u2010Kinderklinik  Heidelberg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Fang","sequence":"additional","affiliation":[{"name":"Sektion f\u00fcr Metabolische und Endokrinologische Erkrankungen Universit\u00e4ts\u2010Kinderklinik  Heidelberg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"K\u00f6rner","sequence":"additional","affiliation":[{"name":"Abt. Biochemie II Georg\u2010August\u2010Universit\u00e4t G\u00f6ttingen  G\u00f6ttingen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Helwig\u2010Rolig","sequence":"additional","affiliation":[{"name":"Abt. Klinische Chemie und Molekulare Diagnostik\u2014Zentrallaboratorium Philipps\u2010Universit\u00e4t  Marburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. R.","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Zentrum Innere Medizin, Abt. Kardiologie, AG Pr\u00e4ventive Kardiologie Philipps\u2010Universit\u00e4t  Marburg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. 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