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Titolo:
A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III
Autore:
Stibler, H; Gylje, H; Uller, A;
Indirizzi:
Karolinska Hosp, Dept Neurol, S-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-17176 urol, S-17176 Stockholm, Sweden Vasteras Cent Hosp, Dept Pediat, Vasteras, Sweden Vasteras Cent Hosp Vasteras Sweden Hosp, Dept Pediat, Vasteras, Sweden East Univ Hosp, Dept Clin Genet, Gothenburg, Sweden East Univ Hosp Gothenburg Sweden p, Dept Clin Genet, Gothenburg, Sweden
Titolo Testata:
NEUROPEDIATRICS
fascicolo: 2, volume: 30, anno: 1999,
pagine: 90 - 92
SICI:
0174-304X(199904)30:2<90:ANSRCG>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE;
Keywords:
CDGS; glycoproteine; dysmorphy; hypsarrythmia; psychomotor delay;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Stibler, H Karolinska Hosp, Dept Neurol, S-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-17176 76 Stockholm, Sweden
Citazione:
H. Stibler et al., "A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III", NEUROPEDIAT, 30(2), 1999, pp. 90-92

Abstract

A 10-month old girl is described with a serum transferrin isoform abnormality of the same kind as in two previously reported girls with carbohydrate-deficient glycoprotein syndrome type III. This patient presented with jointabnormalities and rapidly developing hypsarrythmia, hypotonia, psychomotordelay and growth retardation. Fingers, toes, nails and local skin were dysmorphic, She had pale optic discs, thoracic syringomyelia and frontal lobe atrophy at three months. The CDT value in serum was greatly elevated. Several carbohydrate-deficient isoforms were found in transferrin (four), alpha(1)-antitrypsin (three), antithrombin (two) and thyroxine-binding globulin (four), Mutations in the CDGS 1-gene were excluded. The CDGS III glycoprotein abnormality most pobably represents a distinct disorder of glycoprotein metabolism, and needs to be considered in unclear hypsarrythmia with developmental delay. Dysmorphic features may be added to this syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 17:17:30