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Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism

Standard

Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism. / Nowak-Göttl, U; Auberger, K; Göbel, U; Kreuz, W; Schneppenheim, R; Vielhaber, H; Zenz, W; Zieger, B.

in: EUR J PEDIATR, Jahrgang 155, Nr. 11, 01.11.1996, S. 921-7.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Nowak-Göttl, U, Auberger, K, Göbel, U, Kreuz, W, Schneppenheim, R, Vielhaber, H, Zenz, W & Zieger, B 1996, 'Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism', EUR J PEDIATR, Jg. 155, Nr. 11, S. 921-7.

APA

Nowak-Göttl, U., Auberger, K., Göbel, U., Kreuz, W., Schneppenheim, R., Vielhaber, H., Zenz, W., & Zieger, B. (1996). Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism. EUR J PEDIATR, 155(11), 921-7.

Vancouver

Nowak-Göttl U, Auberger K, Göbel U, Kreuz W, Schneppenheim R, Vielhaber H et al. Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism. EUR J PEDIATR. 1996 Nov 1;155(11):921-7.

Bibtex

@article{425de1c5079b4508a92252d118078305,
title = "Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism",
abstract = "Childhood thrombo-embolism is mostly the result of inherited thrombophilia or vascular insults combined with risk factors such as peripartal asphyxia, fetopathia diabetica, exsiccosis, septicaemia, central lines, congenital heart disease, cancer, trauma, surgery or elevated antiphospholipid antibodies. Inherited thrombophilia includes mainly defects of the protein C pathway, resistance to activated protein C, protein C or protein S deficiency. Resistance to activated protein C, in the majority of cases caused by the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of thrombo-embolism in adults and children. However, since an acquired risk of thrombo-embolic complications frequently masks the inherited deficiency in affected children, children with thrombo-embolism should have adequate laboratory evaluation for inherited coagulation disorders, especially the protein C pathway. Until more data on childhood thrombo-embolism are available, treatment recommendations will continue to be extrapolated from guidelines for adults.",
keywords = "Blood Coagulation, Blood Coagulation Disorders, Child, Genetic Testing, Genotype, Heterozygote, Humans, Mutation, Phenotype, Protein C, Protein C Deficiency, Thromboembolism",
author = "U Nowak-G{\"o}ttl and K Auberger and U G{\"o}bel and W Kreuz and R Schneppenheim and H Vielhaber and W Zenz and B Zieger",
year = "1996",
month = nov,
day = "1",
language = "English",
volume = "155",
pages = "921--7",
journal = "EUR J PEDIATR",
issn = "0340-6199",
publisher = "Springer",
number = "11",

}

RIS

TY - JOUR

T1 - Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism

AU - Nowak-Göttl, U

AU - Auberger, K

AU - Göbel, U

AU - Kreuz, W

AU - Schneppenheim, R

AU - Vielhaber, H

AU - Zenz, W

AU - Zieger, B

PY - 1996/11/1

Y1 - 1996/11/1

N2 - Childhood thrombo-embolism is mostly the result of inherited thrombophilia or vascular insults combined with risk factors such as peripartal asphyxia, fetopathia diabetica, exsiccosis, septicaemia, central lines, congenital heart disease, cancer, trauma, surgery or elevated antiphospholipid antibodies. Inherited thrombophilia includes mainly defects of the protein C pathway, resistance to activated protein C, protein C or protein S deficiency. Resistance to activated protein C, in the majority of cases caused by the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of thrombo-embolism in adults and children. However, since an acquired risk of thrombo-embolic complications frequently masks the inherited deficiency in affected children, children with thrombo-embolism should have adequate laboratory evaluation for inherited coagulation disorders, especially the protein C pathway. Until more data on childhood thrombo-embolism are available, treatment recommendations will continue to be extrapolated from guidelines for adults.

AB - Childhood thrombo-embolism is mostly the result of inherited thrombophilia or vascular insults combined with risk factors such as peripartal asphyxia, fetopathia diabetica, exsiccosis, septicaemia, central lines, congenital heart disease, cancer, trauma, surgery or elevated antiphospholipid antibodies. Inherited thrombophilia includes mainly defects of the protein C pathway, resistance to activated protein C, protein C or protein S deficiency. Resistance to activated protein C, in the majority of cases caused by the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of thrombo-embolism in adults and children. However, since an acquired risk of thrombo-embolic complications frequently masks the inherited deficiency in affected children, children with thrombo-embolism should have adequate laboratory evaluation for inherited coagulation disorders, especially the protein C pathway. Until more data on childhood thrombo-embolism are available, treatment recommendations will continue to be extrapolated from guidelines for adults.

KW - Blood Coagulation

KW - Blood Coagulation Disorders

KW - Child

KW - Genetic Testing

KW - Genotype

KW - Heterozygote

KW - Humans

KW - Mutation

KW - Phenotype

KW - Protein C

KW - Protein C Deficiency

KW - Thromboembolism

M3 - SCORING: Journal article

C2 - 8911889

VL - 155

SP - 921

EP - 927

JO - EUR J PEDIATR

JF - EUR J PEDIATR

SN - 0340-6199

IS - 11

ER -