{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T14:03:18Z","timestamp":1771509798121,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,10]],"date-time":"2013-12-10T00:00:00Z","timestamp":1386633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Upshaw\u2013<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>chulman syndrome (<jats:styled-content style=\"fixed-case\">USS<\/jats:styled-content>) is due to severe congenital deficiency of von <jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>illebrand factor (<jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content>)\u2010cleaving protease <jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of <jats:styled-content style=\"fixed-case\">VWF<\/jats:styled-content> in the circulation, causing intravascular platelet clumping and thrombotic microangiopathy. Our patient, a 26\u2010year\u2010old man, had attacks of thrombotic thrombocytopenic purpura (<jats:styled-content style=\"fixed-case\">TTP<\/jats:styled-content>) with thrombocytopenia and a urine dipstick positive for hemoglobin (4+), often as the only sign of hemolytic activity. He had <jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13 activity of &lt;1% of normal plasma without the presence of inhibitors of <jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13. <jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13 deficiency was caused by two new mutations of the <jats:italic><jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13<\/jats:italic> gene: a deletion of a single nucleotide in exon17 (c. 2042 delA) leading to a frameshift (<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>681<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> fs <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>16), and a missense mutation in exon 25 (c.3368<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>) leading to p.R1123H. This case report confirms the importance of the analysis of the <jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>13 activity and its inhibitor in patients who have episodes of <jats:styled-content style=\"fixed-case\">TTP<\/jats:styled-content>, with a very low platelet count and sometimes without the classic biochemical signs of hemolysis.<\/jats:p>","DOI":"10.1111\/ejh.12197","type":"journal-article","created":{"date-parts":[[2013,8,26]],"date-time":"2013-08-26T14:02:42Z","timestamp":1377525762000},"page":"168-171","source":"Crossref","is-referenced-by-count":14,"title":["Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the <i><scp>ADAMTS<\/scp>13<\/i> gene"],"prefix":"10.1111","volume":"92","author":[{"given":"Cecilie Utke","family":"Rank","sequence":"first","affiliation":[{"name":"Department of Hematology Rigshospitalet University Hospital Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Kremer Hovinga","sequence":"additional","affiliation":[{"name":"Department of Hematology &amp; Central Hematology Laboratory Inselspital, Bern University Hospital &amp; University of Bern Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magnus Mansouri","family":"Taleghani","sequence":"additional","affiliation":[{"name":"Department of Hematology &amp; Central Hematology Laboratory Inselspital, Bern University Hospital &amp; University of Bern Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernhard","family":"L\u00e4mmle","sequence":"additional","affiliation":[{"name":"Department of Hematology &amp; Central Hematology Laboratory Inselspital, Bern University Hospital &amp; University of Bern Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens Peter","family":"G\u00f8tze","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Rigshospitalet University Hospital Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ove Juul","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Department of Hematology Rigshospitalet University Hospital Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.57.061804.084505"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.pathmechdis.3.121806.154311"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1182\/asheducation.V2012.1.610.3798654","article-title":"Role of ADAMTS13 in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura","volume":"2012","author":"Kremer Hovinga JA","year":"2012","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.67.1.395"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-009-0476-1"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.10.4223.bloodjournal87104223"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.10.4235.bloodjournal87104235"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1053\/beha.2001.0142"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-02-0344"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1616"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/35097008"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.172277399"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7933.2004.00623.x"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21143"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2011.04341.x"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0354-2"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05420.x"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.01904.x"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.051433"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-196603000-00003"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fejh.12197","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.12197","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T23:22:00Z","timestamp":1695511320000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.12197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,10]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1111\/ejh.12197"],"URL":"https:\/\/doi.org\/10.1111\/ejh.12197","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,10]]}}}