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Titolo:
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - A 4TH SUBTYPE
Autore:
STIBLER H; STEPHANI U; KUTSCH U;
Indirizzi:
KAROLINSKA HOSP,DEPT NEUROL S-17176 STOCKHOLM SWEDEN CHRISTIAN ALBRECHTS UNIV KIEL,DEPT PEDIAT W-2300 KIEL GERMANY UNIV ULM,DEPT MED GENET W-7900 ULM GERMANY
Titolo Testata:
Neuropediatrics
fascicolo: 5, volume: 26, anno: 1995,
pagine: 235 - 237
SICI:
0174-304X(1995)26:5<235:CGS-A4>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSFERRIN; DISORDERS;
Keywords:
CDG SYNDROME; GLYCOPROTEINS; EPILEPSY; MICROCEPHALY;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
H. Stibler et al., "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - A 4TH SUBTYPE", Neuropediatrics, 26(5), 1995, pp. 235-237

Abstract

Two infants are described, who, we suggest, represent a fourth subtype of carbohydrate-deficient glycoprotein (CDG) syndrome. Both patientsshowed microcephaly and severe epilepsy with absent psychomotor development and similar minor dysmorphic features. There were no signs of liver dysfunction. Several glycoproteins in blood, including transferrin, alpha(1)-antitrypsin, antithrombin and thyroxine-binding globulin, demonstrated abnormal isoforms suggesting a partial deficiency of mainly one or two sialic acid residues. Both the clinical picture and the glycoprotein abnormalities were different from previously defined types of CDG syndrome.

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Documento generato il 24/09/20 alle ore 20:18:24