438:, and fibrinogen concentration transfusions to help with bleeding episodes or prior to surgery. Although some thrombotic complications have been reported following replacement therapy, transfusions of fibrinogen concentrate are widely considered to be the most beneficial. Fibrinogen concentrate is pure, contains a known quantity of fibrinogen, is virally inactivated, and is transfused in small amounts. There is a lower chance of allergic reaction in response to transfusion. Alternatively, cryoprecipitate contains other coagulation factors, factors VIII, XIII, and von Willebrand factor. There are no known cures or forms of holistic care to date. Most complications arise from the symptoms of the disorder.
39:
455:
It was first described in 1920 by German doctors, Fritz Rabe and Eugene
Salomon, studying a bleeding disorder presenting itself in a child from birth. This disorder may also be simply called afibrinogenemia or familial afibrinogenemia. About 1 in 1 million individuals are diagnosed with the disease;
140:
done to see if they are a carrier of the trait, and if so may choose to complete genetic counseling to better understand the disorder and help manage family planning. Parents can choose to do prenatal genetic testing for the disorder to determine if their child will have the disease.
135:
A missense or nonsense mutation to the genes that code for the fibrinogen protein are affected. Usually the mutation leads to an early stop in the production of the protein. Due to the problem being genetically based, there is no way to prevent the disease. Individuals can get
446:
As there is not much data out on the life expectancy of an individual with afibrinogenemia, it is difficult to determine the average lifespan. However, the leading cause of death thus far is linked to CNS hemorrhage and postoperative bleeding.
697:
Neerman-Arbez, Marguerite; Vu, Dung; Abu-Libdeh, Bassam; Bouchardy, Isabelle; Morris, Michael A. (2003-05-01). "Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a
Palestinian family".
1104:
1089:
321:
468:
Currently research is based in pharmacological treatments. A case from 2015 was seen in which congenital afibrinogenemia was resolved in a patient after receiving a liver transplant.
793:
Borhany, Munira; Pahore, Zaen; ul Qadr, Zeeshan; Rehan, Muhammad; Naz, Arshi; Khan, Asif; Ansari, Saqib; Farzana, Tasneem; Nadeem, Muhammad; Raza, Syed Amir; Shamsi, Tahir (2010).
1019:
Gallastegui, N.; Kimble, E. L.; Harrington, T. J. (2015-09-01). "Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation".
75:, meaning that two unaffected parents can have a child with the disorder. The lack of fibrinogen expresses itself with excessive and, at times, uncontrollable bleeding.
1215:
149:
Individuals with the disorder have a mutation to their fibrinogen gene that prevents the formation of the protein. In normal conditions, fibrinogen is converted to
668:
946:
217:
157:
in the blood. The newly formed fibrin forms a fiber-rich network that helps trap red blood cells to start the coagulation process and form a clot.
1208:
83:
As this is a disorder that is present in an individual from birth, there are no warning signs to look for. The first symptom usually seen is
585:
Vu, Dung; Bolton-Maggs, Paula H. B.; Parr, Jeremy R.; Morris, Michael A.; Moerloose, Philippe de; Neerman-Arbez, Marguerite (2003-12-15).
201:
Blood fibrinogen levels of less than 0.1 g/L and prolonged bleeding test times are indicators of an individual having afibrinogenemia.
1201:
499:"Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: An update and report of 10 novel mutations"
1332:
669:"Afibrinogenemia | Disease | Your Questions Answered | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
1507:
1490:
1119:
676:
587:"Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion"
456:
typically at birth. Both males and females seem to be affected equally, but it has a higher occurrence in regions where
845:
1569:
1521:
386:
995:
1288:
864:
1835:
1575:
1561:
351:
205:
1549:
1512:
1382:
326:
101:
52:
1702:
1278:
639:
179:
216:
1502:
1773:
1344:
1325:
38:
1743:
1486:
1315:
1130:
232:
1830:
1733:
1526:
1647:
1622:
1580:
123:
1170:
970:
1642:
1632:
1450:
227:
1398:
1293:
1283:
557:"Inherited Abnormalities of Fibrinogen: Practice Essentials, Pathophysiology, Epidemiology"
8:
1637:
1627:
1423:
1303:
1108:
767:
556:
477:
275:
72:
742:
1763:
1445:
1403:
1377:
1250:
1052:
923:
892:
528:
1113:
1652:
1428:
1337:
1193:
1141:
1044:
1036:
928:
910:
824:
816:
723:
715:
616:
608:
520:
297:
212:
27:
532:
1478:
1418:
1413:
1273:
1181:
1056:
1028:
918:
900:
806:
707:
598:
510:
174:
1758:
1592:
1433:
1298:
1135:
431:
137:
95:
1783:
1495:
1438:
1320:
711:
603:
586:
190:
170:
When a problem of fibrinogen is suspected, the following tests can be ordered:
1098:
1824:
1793:
1615:
1610:
1605:
1362:
1146:
1040:
914:
893:"Treatment of congenital fibrinogen deficiency: overview and recent findings"
820:
719:
612:
457:
195:
1536:
1803:
1245:
1048:
947:"Factor I deficiency (Fibrinogen deficiency) - Canadian Hemophilia Society"
932:
828:
811:
794:
727:
620:
524:
435:
249:
111:
1600:
1408:
1240:
1229:
1165:
253:
117:
68:
1081:
1788:
1753:
1728:
1372:
1354:
905:
795:"Bleeding disorders in the tribe: result of consanguineous in breeding"
515:
498:
430:
The most common treatment is fibrinogen replacement therapy, including
242:
184:
84:
60:
32:
1032:
1778:
1723:
1310:
1176:
772:
1692:
1687:
1677:
1367:
1225:
237:
154:
696:
1738:
1697:
403:
64:
1124:
996:"Search of: afibrinogenemia - List Results - ClinicalTrials.gov"
1682:
1093:
150:
56:
107:
Excessive/spontaneous bleeding or bruising from minor injury
1018:
497:
Neerman-Arbez, Marguerite; De
Moerloose, Philippe (2007).
204:
A suspicion of congenital afibrinogenemia may appear on a
792:
496:
584:
1223:
1071:
788:
786:
784:
782:
780:
87:from the umbilical cord that is difficult to stop.
747:InterPro : Classification of protein families
1822:
777:
1209:
490:
1216:
1202:
59:does not clot normally due to the lack of
37:
922:
904:
890:
840:
838:
810:
602:
514:
740:
390:
1470:
886:
884:
554:
322:Von Willebrand disease (except Type 2B)
51:is a rare, genetically inherited blood
1823:
835:
1197:
78:
881:
741:McDowall, Jennifer (November 2006).
663:
661:
659:
634:
632:
630:
580:
578:
576:
550:
548:
546:
544:
542:
187:level in blood (total and clottable)
897:Vascular Health and Risk Management
846:"Why Perform Platelet Aggregation?"
165:
13:
555:Acharya, Suchitra S (2023-04-20).
14:
1847:
1067:
799:Orphanet Journal of Rare Diseases
656:
627:
573:
539:
215:by disorders and agonists
153:when it is cleaved by the enzyme
1570:platelet storage pool deficiency
1522:Heparin-induced thrombocytopenia
891:Tziomalos, Konstantinos (2009).
1012:
988:
963:
939:
857:
210:
1289:Activated protein C resistance
760:
734:
690:
1:
483:
213:Platelet aggregation function
206:platelet aggregation function
1383:Trousseau sign of malignancy
971:"Congenital afibrinogenemia"
865:"Congenital afibrinogenemia"
640:"Congenital Afibrinogenemia"
441:
425:
160:
144:
7:
1703:Nonthrombocytopenic purpura
1279:Antithrombin III deficiency
471:
463:
10:
1852:
1658:Congenital afibrinogenemia
1562:Glanzmann's thrombasthenia
712:10.1182/blood-2002-10-3116
604:10.1182/blood-2003-06-2141
450:
352:Glanzmann's thrombasthenia
49:Congenital afibrinogenemia
22:Congenital afibrinogenemia
1774:Gastrointestinal bleeding
1713:
1670:
1591:
1576:Hermansky–Pudlak syndrome
1535:
1477:
1463:
1391:
1353:
1345:Antiphospholipid syndrome
1326:Essential thrombocythemia
1266:
1259:
1236:
1156:
1075:
673:rarediseases.info.nih.gov
408:
406:or aspirin-like disorder
130:
26:
21:
1744:Subconjunctival bleeding
1550:Bernard–Soulier syndrome
1513:Upshaw–Schulman syndrome
1487:Thrombocytopenic purpura
1316:Sticky platelet syndrome
327:Bernard–Soulier syndrome
90:Other symptoms include:
1734:Intracranial hemorrhage
975:Genetics Home Reference
387:Storage pool deficiency
1648:Factor XIII deficiency
1628:Hypoprothrombinemia/II
1623:von Willebrand disease
1581:Gray platelet syndrome
812:10.1186/1750-1172-5-23
1643:Factor XII deficiency
1633:Factor VII deficiency
1451:Renal vein thrombosis
1836:Congenital disorders
1399:Deep vein thrombosis
1294:Protein S deficiency
1284:Protein C deficiency
869:www.pennmedicine.org
118:Spontaneous abortion
1638:Factor X deficiency
1527:May–Hegglin anomaly
1304:Prothrombin G20210A
478:Factor I Deficiency
343:Decreased or absent
310:Decreased or absent
276:Adrenergic receptor
221:
73:autosomal recessive
71:. This disorder is
53:fibrinogen disorder
1764:Pulmonary hematoma
1671:Signs and symptoms
1446:Pulmonary embolism
1251:Bleeding diathesis
1157:External resources
1000:clinicaltrials.gov
906:10.2147/VHRM.S5305
850:Helena Biosciences
561:Medscape Reference
516:10.1002/humu.20483
410:Absent second wave
392:Absent second wave
252:defect (including
211:
79:Signs and symptoms
1818:
1817:
1814:
1813:
1666:
1665:
1653:Dysfibrinogenemia
1537:Platelet function
1459:
1458:
1338:Purpura fulminans
1191:
1190:
1033:10.1111/hae.12802
951:www.hemophilia.ca
768:Dysfibrinogenemia
597:(13): 4413–4415.
423:
422:
298:Collagen receptor
46:
45:
16:Medical condition
1843:
1479:Thrombocytopenia
1475:
1474:
1468:
1467:
1424:Lowenberg's sign
1274:Clotting factors
1264:
1263:
1218:
1211:
1204:
1195:
1194:
1073:
1072:
1061:
1060:
1016:
1010:
1009:
1007:
1006:
992:
986:
985:
983:
982:
967:
961:
960:
958:
957:
943:
937:
936:
926:
908:
888:
879:
878:
876:
875:
861:
855:
853:
842:
833:
832:
814:
790:
775:
764:
758:
757:
755:
753:
738:
732:
731:
706:(9): 3492–3494.
694:
688:
687:
685:
684:
675:. Archived from
665:
654:
653:
651:
650:
636:
625:
624:
606:
582:
571:
570:
568:
567:
552:
537:
536:
518:
494:
222:
220:
166:Diagnostic tests
120:during pregnancy
102:Gastrointestinal
42:
41:
19:
18:
1851:
1850:
1846:
1845:
1844:
1842:
1841:
1840:
1821:
1820:
1819:
1810:
1759:Hemopericardium
1709:
1662:
1593:Clotting factor
1587:
1531:
1455:
1404:Bancroft's sign
1387:
1378:Virchow's triad
1349:
1299:Factor V Leiden
1255:
1232:
1222:
1192:
1187:
1186:
1152:
1151:
1084:
1070:
1065:
1064:
1017:
1013:
1004:
1002:
994:
993:
989:
980:
978:
969:
968:
964:
955:
953:
945:
944:
940:
889:
882:
873:
871:
863:
862:
858:
844:
843:
836:
791:
778:
765:
761:
751:
749:
739:
735:
695:
691:
682:
680:
667:
666:
657:
648:
646:
638:
637:
628:
583:
574:
565:
563:
553:
540:
495:
491:
486:
474:
466:
453:
444:
432:cryoprecipitate
428:
357:Afibrinogenemia
168:
163:
147:
138:genetic testing
133:
94:Nasal and oral
81:
36:
17:
12:
11:
5:
1849:
1839:
1838:
1833:
1831:Coagulopathies
1816:
1815:
1812:
1811:
1809:
1808:
1807:
1806:
1798:
1797:
1796:
1791:
1786:
1784:Hemoperitoneum
1781:
1776:
1768:
1767:
1766:
1761:
1756:
1748:
1747:
1746:
1741:
1736:
1731:
1726:
1717:
1715:
1711:
1710:
1708:
1707:
1706:
1705:
1695:
1690:
1685:
1680:
1674:
1672:
1668:
1667:
1664:
1663:
1661:
1660:
1655:
1650:
1645:
1640:
1635:
1630:
1625:
1620:
1619:
1618:
1613:
1608:
1597:
1595:
1589:
1588:
1586:
1585:
1584:
1583:
1578:
1566:
1565:
1564:
1554:
1553:
1552:
1541:
1539:
1533:
1532:
1530:
1529:
1524:
1518:
1517:
1516:
1515:
1510:
1500:
1499:
1498:
1496:Evans syndrome
1483:
1481:
1472:
1465:
1461:
1460:
1457:
1456:
1454:
1453:
1448:
1443:
1442:
1441:
1436:
1431:
1429:Peabody's sign
1426:
1421:
1416:
1411:
1406:
1395:
1393:
1389:
1388:
1386:
1385:
1380:
1375:
1370:
1365:
1359:
1357:
1351:
1350:
1348:
1347:
1342:
1341:
1340:
1330:
1329:
1328:
1323:
1321:Thrombocytosis
1318:
1308:
1307:
1306:
1301:
1296:
1291:
1286:
1281:
1270:
1268:
1261:
1257:
1256:
1254:
1253:
1248:
1243:
1237:
1234:
1233:
1221:
1220:
1213:
1206:
1198:
1189:
1188:
1185:
1184:
1173:
1161:
1160:
1158:
1154:
1153:
1150:
1149:
1138:
1127:
1116:
1101:
1085:
1080:
1079:
1077:
1076:Classification
1069:
1068:External links
1066:
1063:
1062:
1027:(1): e48–e51.
1011:
987:
962:
938:
880:
856:
834:
776:
759:
733:
689:
655:
626:
572:
538:
503:Human Mutation
488:
487:
485:
482:
481:
480:
473:
470:
465:
462:
460:is prevalent.
452:
449:
443:
440:
427:
424:
421:
420:
417:
412:
407:
400:
399:
394:
389:
383:
382:
376:
371:
366:
361:
360:
359:
354:
346:
345:
340:
337:
334:
331:
330:
329:
324:
316:
315:
312:
307:
304:
301:
294:
293:
290:
287:
282:
279:
272:
271:
268:
265:
262:
257:
246:
245:
240:
235:
230:
225:
199:
198:
193:
191:Reptilase time
188:
182:
177:
167:
164:
162:
159:
146:
143:
132:
129:
128:
127:
121:
115:
108:
105:
99:
80:
77:
67:necessary for
44:
43:
30:
24:
23:
15:
9:
6:
4:
3:
2:
1848:
1837:
1834:
1832:
1829:
1828:
1826:
1805:
1802:
1801:
1799:
1795:
1794:Hematosalpinx
1792:
1790:
1787:
1785:
1782:
1780:
1777:
1775:
1772:
1771:
1769:
1765:
1762:
1760:
1757:
1755:
1752:
1751:
1749:
1745:
1742:
1740:
1737:
1735:
1732:
1730:
1727:
1725:
1722:
1721:
1719:
1718:
1716:
1712:
1704:
1701:
1700:
1699:
1696:
1694:
1691:
1689:
1686:
1684:
1681:
1679:
1676:
1675:
1673:
1669:
1659:
1656:
1654:
1651:
1649:
1646:
1644:
1641:
1639:
1636:
1634:
1631:
1629:
1626:
1624:
1621:
1617:
1614:
1612:
1609:
1607:
1604:
1603:
1602:
1599:
1598:
1596:
1594:
1590:
1582:
1579:
1577:
1574:
1573:
1572:
1571:
1567:
1563:
1560:
1559:
1558:
1555:
1551:
1548:
1547:
1546:
1543:
1542:
1540:
1538:
1534:
1528:
1525:
1523:
1520:
1519:
1514:
1511:
1509:
1506:
1505:
1504:
1501:
1497:
1494:
1493:
1492:
1488:
1485:
1484:
1482:
1480:
1476:
1473:
1469:
1466:
1462:
1452:
1449:
1447:
1444:
1440:
1437:
1435:
1432:
1430:
1427:
1425:
1422:
1420:
1419:Louvel's sign
1417:
1415:
1414:Lisker's sign
1412:
1410:
1407:
1405:
1402:
1401:
1400:
1397:
1396:
1394:
1390:
1384:
1381:
1379:
1376:
1374:
1371:
1369:
1366:
1364:
1363:Thrombophilia
1361:
1360:
1358:
1356:
1352:
1346:
1343:
1339:
1336:
1335:
1334:
1331:
1327:
1324:
1322:
1319:
1317:
1314:
1313:
1312:
1309:
1305:
1302:
1300:
1297:
1295:
1292:
1290:
1287:
1285:
1282:
1280:
1277:
1276:
1275:
1272:
1271:
1269:
1265:
1262:
1258:
1252:
1249:
1247:
1244:
1242:
1239:
1238:
1235:
1231:
1227:
1224:Disorders of
1219:
1214:
1212:
1207:
1205:
1200:
1199:
1196:
1183:
1179:
1178:
1174:
1172:
1168:
1167:
1163:
1162:
1159:
1155:
1148:
1144:
1143:
1139:
1137:
1133:
1132:
1128:
1126:
1122:
1121:
1117:
1115:
1111:
1110:
1106:
1102:
1100:
1096:
1095:
1091:
1087:
1086:
1083:
1078:
1074:
1058:
1054:
1050:
1046:
1042:
1038:
1034:
1030:
1026:
1022:
1015:
1001:
997:
991:
976:
972:
966:
952:
948:
942:
934:
930:
925:
920:
916:
912:
907:
902:
898:
894:
887:
885:
870:
866:
860:
851:
847:
841:
839:
830:
826:
822:
818:
813:
808:
804:
800:
796:
789:
787:
785:
783:
781:
774:
770:
769:
763:
748:
744:
737:
729:
725:
721:
717:
713:
709:
705:
701:
693:
679:on 2015-12-22
678:
674:
670:
664:
662:
660:
645:
641:
635:
633:
631:
622:
618:
614:
610:
605:
600:
596:
592:
588:
581:
579:
577:
562:
558:
551:
549:
547:
545:
543:
534:
530:
526:
522:
517:
512:
509:(6): 540–53.
508:
504:
500:
493:
489:
479:
476:
475:
469:
461:
459:
458:consanguinity
448:
439:
437:
433:
418:
416:
413:
411:
405:
402:
401:
398:
395:
393:
388:
385:
384:
381:
377:
375:
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1804:Hemarthrosis
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1434:Pratt's sign
1246:coagulopathy
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1003:. Retrieved
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977:. 2015-11-09
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872:. Retrieved
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750:. Retrieved
746:
743:"Fibrinogen"
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681:. Retrieved
677:the original
672:
647:. Retrieved
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564:. Retrieved
560:
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436:blood plasma
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250:P2Y receptor
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134:
126:hemorrhaging
112:menstruation
89:
82:
48:
47:
1557:aggregation
1439:Rose's sign
1409:Homans sign
1241:Coagulation
1166:MedlinePlus
1021:Haemophilia
254:Clopidogrel
233:Epinephrine
69:coagulation
1825:Categories
1789:Hematocele
1754:Hemothorax
1729:Hemoptysis
1601:Hemophilia
1373:Thrombosis
1142:DiseasesDB
1005:2015-12-10
981:2015-11-12
956:2015-11-12
874:2015-11-12
683:2015-11-12
649:2015-11-12
566:2024-06-24
484:References
378:Normal or
243:Ristocetin
185:Fibrinogen
110:Prolonged
85:hemorrhage
63:, a blood
61:fibrinogen
33:Hematology
1779:Hemobilia
1724:Epistaxis
1311:Platelets
1177:eMedicine
1041:1365-2516
915:1178-2048
821:1750-1172
773:eMedicine
720:0006-4971
613:0006-4971
442:Prognosis
426:Treatment
380:decreased
374:Decreased
369:Decreased
364:Decreased
285:Decreased
260:Decreased
161:Diagnosis
145:Mechanism
28:Specialty
1770:abdomen
1693:Petechia
1688:Hematoma
1678:Bleeding
1545:adhesion
1471:By cause
1464:Bleeding
1368:Thrombus
1267:By cause
1260:Clotting
1230:clotting
1226:bleeding
1182:ped/3042
1049:26421965
933:19851522
829:20822539
728:12511408
621:12893758
533:20398127
525:17295221
472:See also
464:Research
238:Collagen
155:thrombin
114:in women
104:bleeding
1739:Hyphema
1714:By site
1698:Purpura
1392:By site
1136:D000347
1057:6287887
924:2762433
899:: 843.
644:DoveMed
451:History
419:Normal
404:Aspirin
397:Partial
314:Normal
300:defect
292:Normal
278:defect
270:Normal
65:protein
1800:joint
1750:torso
1683:Bruise
1606:A/VIII
1171:001313
1125:202400
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752:7 July
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523:
415:Absent
339:Normal
336:Normal
333:Normal
306:Normal
303:Normal
289:Normal
281:Normal
267:Normal
264:Normal
208:test.
151:fibrin
131:Causes
98:bleeds
96:mucosa
35:
1720:head
1355:Clots
1114:286.3
1099:D68.2
1053:S2CID
805:(1).
700:Blood
591:Blood
529:S2CID
57:blood
1616:C/XI
1611:B/IX
1228:and
1131:MeSH
1120:OMIM
1109:9-CM
1045:PMID
1037:ISSN
929:PMID
911:ISSN
854:2015
825:PMID
817:ISSN
754:2020
724:PMID
716:ISSN
617:PMID
609:ISSN
521:PMID
218:edit
1508:TTP
1491:ITP
1333:DIC
1147:307
1105:ICD
1090:ICD
1029:doi
919:PMC
901:doi
807:doi
771:at
708:doi
704:101
599:doi
595:102
511:doi
228:ADP
180:PTT
124:CNS
1827::
1503:TM
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