{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T23:22:29Z","timestamp":1768000949151,"version":"3.49.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2003,3,8]],"date-time":"2003-03-08T00:00:00Z","timestamp":1047081600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"published-print":{"date-parts":[[2003,4]]},"DOI":"10.1007\/s00277-002-0571-3","type":"journal-article","created":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T02:21:58Z","timestamp":1576117318000},"page":"254-256","source":"Crossref","is-referenced-by-count":24,"title":["Osteopetrosis and Glanzmann's thrombasthenia in a child"],"prefix":"10.1007","volume":"82","author":[{"given":"N.","family":"Yaral\u0131","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"F\u0131\u015fg\u0131n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Duru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2003,3,8]]},"reference":[{"key":"0571_CR1","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1055\/s-0037-1615250","volume":"80","author":"Byzova","year":"1998","unstructured":"Byzova TV, Rabbani R, D'Souza SE, Plow EF (1998) Role of integrin alpha (v) beta3 in vascular biology. Thromb Haemost 80:726\u2013734","journal-title":"Thromb Haemost"},{"key":"0571_CR2","first-page":"1857","volume":"84","author":"Chen","year":"1994","unstructured":"Chen YP, O'Toole TE, Ylanne J, Rosa JP, Ginsberg MH (1994) A point mutation in the integrin beta 3 cytoplasmic domain (S752\u2192P) impairs bidirectional signaling through alpha IIb beta 3 (platelet glycoprotein IIb-IIIa)of the integrin beta 3 subunit Blood 84:1857\u20131865","journal-title":"of the integrin beta 3 subunit Blood"},{"key":"0571_CR3","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1182\/blood.V77.1.75.75","volume":"77","author":"Coller","year":"1991","unstructured":"Coller BS, Cheresh DA, Asch E, Seligshon U (1991) Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in Israel. Blood 77:75\u201383","journal-title":"Blood"},{"key":"0571_CR4","unstructured":"Coller BS, French DL (2001) Hereditary qualitative platelet disorders. In: Beutler E, Lichtman MA, Coller BS, Kipps TJ, Seligsohn U (eds) Williams hematology, 6th edn. McGraw-Hill, New York, pp 1551\u20131560"},{"key":"0571_CR5","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1083\/jcb.109.4.1817","volume":"109","author":"Davies","year":"1989","unstructured":"Davies J, Warwick J, Totty N, Philp R, Helfrich M, Horton M (1989) The osteoclast functional antigen, implicated in the regulation of bone resorption, is biochemically related to the vitronectin receptor. J Cell Biol 109:1817\u20131826","journal-title":"J Cell Biol"},{"key":"0571_CR6","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1055\/s-0038-1657508","volume":"78","author":"Du","year":"1997","unstructured":"Du X, Ginsberg MH (1997) Integrin \u03b1IIb\u03b23 and platelet function. Thromb Haemost 78:96\u2013100","journal-title":"Thromb Haemost"},{"key":"0571_CR7","doi-asserted-by":"crossref","first-page":"2284","DOI":"10.1172\/JCI119404","volume":"99","author":"Englemann","year":"1997","unstructured":"Englemann VW, Nickols GA, Ross FP, Horton MA, Griggs DW, Settle SL, Ruminski PG, Teitelbaum SL (1997) A peptidomimetic antagonist of the integrin inhibits bone resorption in vitro and prevents osteopetrosis in vivo. J. Clin Invest 99:2284\u20132292","journal-title":"Clin Invest"},{"key":"0571_CR8","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/77131","volume":"25","author":"Frattini","year":"2000","unstructured":"Frattini A, Orchard PJ, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrant P, Zecca L, Notarangel LD, Vezzoni P, Villa A (2000) Defects in TCIRG1 subunit of vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25:343\u2013346","journal-title":"Nat Genet"},{"key":"0571_CR9","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1530\/eje.0.1340143","volume":"134","author":"Felix","year":"1996","unstructured":"Felix R, Hofstetter W, Cechini MG (1996) Recent developments in the understanding of the pathophysiology of osteopetrosis. Eur J Endocrinol 134:143\u2013156","journal-title":"Eur J Endocrinol"},{"key":"0571_CR10","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1172\/JCI12040","volume":"107","author":"Feng","year":"2001","unstructured":"Feng X, Novack DV, Faccio R, Ory DS, Aya K, Boyer MI, McHugh KP, Ross FP, Teitelbaum SL (2001) A Glanzmann's mutation in \u03b23 integrin specifically impairs osteoclast function. J Clin Invest 107:1137\u20131144","journal-title":"J Clin Invest"},{"key":"0571_CR11","unstructured":"French Dl (accessed June1, 1999) Glanzmann Thrombasthenia Database. Mouth Sinai School of Medicine Web site. Available at: http:\/\/med.mssm.edu\/glanzmannDB\/"},{"key":"0571_CR12","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1182\/blood.V75.7.1383.1383","volume":"75","author":"George","year":"1990","unstructured":"George JN, Caen JP, Nurden AT (1990) Glanzmann's thrombasthenia; the spectrum of clinical disease. Blood 75:1383\u20131395","journal-title":"Blood"},{"key":"0571_CR13","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1542\/peds.93.2.247","volume":"93","author":"Gerritsen","year":"1994","unstructured":"Gerritsen EJ, Vossen JM, van Loo IHG, Hermans J, Helfrich MH, Griscelli C, Fischer A (1994) Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 93:247\u2013253","journal-title":"Pediatrics"},{"key":"0571_CR14","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/S0945-053X(00)00066-4","volume":"19","author":"Hogg","year":"2000","unstructured":"Hogg N, Bates PA (2000) Genetic analysis of integrin function in man: LAD-1 and other syndromes. Matrix Biol 19:211\u2013222","journal-title":"Matrix Biol"},{"key":"0571_CR15","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/sj.bmt.1702743","volume":"27","author":"Kapelushnik","year":"2001","unstructured":"Kapelushnik J, Shalev C, Yaniv I, Aker I, Carmi R, Cohen Z, Mozer A, Schulman C, Stein G, Or R (2001) Osteopetrosis: a single centre experience of stem cell transplantation and prenatal diagnosis. Bone Marrow Transplant 27:129\u2013132","journal-title":"Bone Marrow Transplant"},{"key":"0571_CR16","first-page":"2059","volume":"C","author":"Kornak","year":"2000","unstructured":"Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C (2000) Hum Mol Genet 12:2059\u20132063","journal-title":"Kubisch"},{"key":"0571_CR17","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","volume":"104","author":"Kornak","year":"2001","unstructured":"Kornak U, Kasper D, B\u00f6sl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Deiling G, Jentsch TJ (2001) Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104:205\u2013215","journal-title":"Cell"},{"key":"0571_CR18","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1172\/JCI118984","volume":"98","author":"Lajeunesse","year":"1996","unstructured":"Lajeunesse D, Busque L, Menard P, Brunette MG, Bonny Y (1996) Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. J Clin Invest 98:1835\u20131842","journal-title":"J Clin Invest"},{"key":"0571_CR19","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1172\/JCI8905","volume":"105","author":"McHugh","year":"2000","unstructured":"McHugh KP, Hodivala-Dilke K, Zheng MH, Namba N, Lam J, Novack D, Feng X, Ross FP, Hynes RO, Teitelbaum SL (2000) Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclasts. J Clin Invest 105:433\u2013440","journal-title":"J Clin Invest"},{"key":"0571_CR20","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1359\/jbmr.1999.14.12.2107","volume":"14","author":"Teti","year":"1999","unstructured":"Teti A, Migliaccio S, Taranta A, Bernardini S, de Rossi G, Luciani M, Iacobini M, DeFelice L, Boldrini R, Bosman C, Corsi A, Bianco P (1999) Mechanisms of osteoclast dysfunction in human osteopetrosis: abnormal osteoclastogenesis and lack of osteoclast-specific adhesion structures. J Bone Miner Res 14:2107\u20132117","journal-title":"J Bone Miner Res"},{"key":"0571_CR21","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1172\/JCI119780","volume":"100","author":"Wang","year":"1997","unstructured":"Wang R, Shattil SJ, Ambruso DR, Newman PJ (1997) Truncation of the cytoplasmic domain of \u03b23 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin \u03b1IIb\u03b23 complex. J Clin Invest 100:2393\u20132403","journal-title":"J Clin Invest"},{"key":"0571_CR22","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1136\/adc.83.5.449","volume":"83","author":"Wilson","year":"2000","unstructured":"Wilson CJ, Vellodi A (2000) Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 83:449\u2013452","journal-title":"Arch Dis Child"}],"container-title":["Annals of Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-002-0571-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00277-002-0571-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-002-0571-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T06:49:30Z","timestamp":1665211770000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00277-002-0571-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,8]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,4]]}},"alternative-id":["0571"],"URL":"https:\/\/doi.org\/10.1007\/s00277-002-0571-3","relation":{},"ISSN":["0939-5555","1432-0584"],"issn-type":[{"value":"0939-5555","type":"print"},{"value":"1432-0584","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,8]]}}}