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Titolo:
COMPLEX FUNCTIONAL AND STRUCTURAL COAGULATION ABNORMALITIES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
Autore:
STIBLER H; HOLZBACH U; TENGBORN L; KRISTIANSSON B;
Indirizzi:
KAROLINSKA HOSP,DEPT NEUROL S-17176 STOCKHOLM SWEDEN SAHLGRENS UNIV HOSP,DEPT INTERNAL MED,COAGULAT CTR S-41345 GOTHENBURGSWEDEN EAST UNIV HOSP,DEPT PEDIAT S-41685 GOTHENBURG SWEDEN
Titolo Testata:
Blood coagulation & fibrinolysis
fascicolo: 2, volume: 7, anno: 1996,
pagine: 118 - 126
SICI:
0957-5235(1996)7:2<118:CFASCA>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
BLOOD-COAGULATION; PROTEIN-C; CEREBROSPINAL-FLUID; THROMBOTIC DISEASE; FACTOR-XI; GENE; ACTIVATION; ASSIGNMENT; DISORDERS; SEQUENCE;
Keywords:
CARBOHYDRATE-DEFICIENT SYNDROME; BLOOD COAGULATION; ISOFORMS; THROMBOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
H. Stibler et al., "COMPLEX FUNCTIONAL AND STRUCTURAL COAGULATION ABNORMALITIES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I", Blood coagulation & fibrinolysis, 7(2), 1996, pp. 118-126

Abstract

Carbohydrate-deficient glycoprotein (CDG) syndrome type I is an autosomal recessive disease with multisystemic manifestations. During childhood the patients may suffer from hemorrhages, which may be lethal, venous thromboses and stroke-like Episodes. In this study 15 patients with CDG syndrome type I were examined for the levels and isoform patterns of coagulation factors and inhibitors and fibrinolysis parameters. The screening assays APTT and PTC were unaffected in most cases. In spite of this reduced levels were found particularly for factors II, V, X and XI and for antithrombin and protein C. Low values tended to he associated with elevated liver enzyme levels in serum. The values were at potential clinical risk levels for protein C and/or antithrombin inmore than half of the patients, and for factor V and/or factor XI in one third of them. There were no current differences in values betweenpatients who had previously displaced clinical symptoms of coagulation disturbance and those without such symptoms. Partially carbohydrate-deficient isoforms were demonstrated in antithrombin, protein C, protein S and in alpha(2)-antiplasmin, but not in factors II, X and fibrinogen. Abnormal isoforms did not appear to reduce the functional activity of the respective glycoproteins. Analysis of individual hemostatic parameters is recommended in these patients in connection with clinicalsymptoms or elective surgery. The observed variability of the carbohydrate defect in glycoproteins in this disease may be a clue to its pathogenesis.

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Documento generato il 25/11/20 alle ore 10:07:05