{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T20:27:49Z","timestamp":1785788869694,"version":"3.56.0"},"reference-count":49,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100008977","name":"Ulm University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008977","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.bone.2022.116634","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T12:44:03Z","timestamp":1670244243000},"page":"116634","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"special_numbering":"C","title":["Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis"],"prefix":"10.1016","volume":"167","author":[{"given":"Ansgar","family":"Schulz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Despina","family":"Moshous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2022.116634_bb0005","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1038\/s41409-021-01282-1","article-title":"T-cell replete haploidentical transplantation with reduced post-transplant cyclophosphamide in six children with infantile osteopetrosis","volume":"56","author":"Al-Seraihy","year":"2021","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.bone.2022.116634_bb0010","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.27751","article-title":"Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: a case report","volume":"66","author":"Baer","year":"2019","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bone.2022.116634_bb0015","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1038\/bmt.2016.180","article-title":"Haploidentical transplantation with post-transplant cyclophosphamide following reduced-intensity conditioning for osteopetrosis: outcomes in three children","volume":"51","author":"Bahr","year":"2016","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.bone.2022.116634_bb0020","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/S0140-6736(77)90592-X","article-title":"Bone-marrow transplantation in osteopetrosis","volume":"2","author":"Ballet","year":"1977","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2022.116634_bb0025","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1056\/NEJM198003273021301","article-title":"Successful bone-marrow transplantation for infantile malignant osteopetrosis","volume":"302","author":"Coccia","year":"1980","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bone.2022.116634_bb0030","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1016\/S0140-6736(11)61938-7","article-title":"Defibrotide for prophylaxis of hepatic veno-occlusive disease in paediatric haemopoietic stem-cell transplantation: an open-label, phase 3, randomised controlled trial","volume":"379","author":"Corbacioglu","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2022.116634_bb0035","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/sj.bmt.1704329","article-title":"Defibrotide in the treatment of children with veno-occlusive disease (VOD): a retrospective multicentre study demonstrates therapeutic efficacy upon early intervention","volume":"33","author":"Corbacioglu","year":"2004","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.bone.2022.116634_bb0040","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/sj.bmt.1705485","article-title":"Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide","volume":"38","author":"Corbacioglu","year":"2006","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.bone.2022.116634_bb0045","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1002\/pbc.25537","article-title":"A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III","volume":"62","author":"Crazzolara","year":"2015","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bone.2022.116634_bb0050","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/sj.bmt.1704194","article-title":"Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report","volume":"32","author":"Driessen","year":"2003","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.bone.2022.116634_bb0055","doi-asserted-by":"crossref","DOI":"10.1016\/j.clim.2020.108365","article-title":"Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis","volume":"213","author":"Essa","year":"2020","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.bone.2022.116634_bb0060","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41409-020-01040-9","article-title":"Haploidentical stem cell transplantation with post-transplant cyclophosphamide for osteopetrosis and other nonmalignant diseases","volume":"56","author":"Even-Or","year":"2021","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.bone.2022.116634_bb0065","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1055\/s-0029-1233492","article-title":"Osteopetrosis due to homozygous chloride channel ClCN7 mutation mimicking metabolic disease with haematological and neurological impairment","volume":"222","author":"Furthner","year":"2010","journal-title":"Klin. Padiatr."},{"key":"10.1016\/j.bone.2022.116634_bb0070","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0022-3476(05)82004-9","article-title":"Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group","volume":"125","author":"Gerritsen","year":"1994","journal-title":"J. Pediatr."},{"key":"10.1016\/j.bone.2022.116634_bb0075","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1542\/peds.93.2.247","article-title":"Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course","volume":"93","author":"Gerritsen","year":"1994","journal-title":"Pediatrics"},{"key":"10.1016\/j.bone.2022.116634_bb0080","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1038\/ejhg.2017.96","article-title":"Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities","volume":"25","author":"Herebian","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bone.2022.116634_bb0085","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.29641","article-title":"A pilot trial of prophylactic defibrotide to prevent serious thrombotic microangiopathy in high-risk pediatric patients","volume":"69","author":"Higham","year":"2022","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bone.2022.116634_bb0090","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1038\/s41409-021-01378-8","article-title":"EBMT\/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity","volume":"56","author":"Lankester","year":"2021","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.bone.2022.116634_bb0095","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00612-2019","article-title":"Pulmonary hypertension after bone marrow transplantation in children","volume":"54","author":"Levy","year":"2019","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.bone.2022.116634_bb0100","doi-asserted-by":"crossref","first-page":"2501","DOI":"10.1002\/jbmr.1712","article-title":"Osteopetrosis rescue upon RANKL administration to Rankl(-\/-) mice: a new therapy for human RANKL-dependent ARO","volume":"27","author":"Lo Iacono","year":"2012","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2022.116634_bb0105","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1359\/jbmr.071015","article-title":"Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis","volume":"23","author":"Maranda","year":"2008","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2022.116634_bb0110","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1182\/blood.V97.7.1947","article-title":"Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome","volume":"97","author":"McMahon","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.bone.2022.116634_bb0115","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/pbc.25801","article-title":"Improved outcomes of hematopoietic stem cell transplantation in patients with infantile malignant osteopetrosis using fludarabine-based conditioning","volume":"63","author":"Natsheh","year":"2016","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bone.2022.116634_bb0120","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1016\/j.bbmt.2019.03.009","article-title":"Haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for primary immunodeficiencies and inherited disorders in children","volume":"25","author":"Neven","year":"2019","journal-title":"Biol. Blood Marrow Transplant"},{"key":"10.1016\/j.bone.2022.116634_bb0125","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1359\/JBMR.050807","article-title":"Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor","volume":"20","author":"Nicholls","year":"2005","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2022.116634_bb0130","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1016\/S0140-6736(77)90482-2","article-title":"Bone-marrow transplantation in osteopetrosis","volume":"2","author":"Nisbet","year":"1977","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2022.116634_bb0135","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1182\/blood-2015-01-625541","article-title":"Hematopoietic stem cell transplantation for infantile osteopetrosis","volume":"126","author":"Orchard","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.bone.2022.116634_bb0140","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.bone.2013.04.007","article-title":"Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1","volume":"55","author":"Ott","year":"2013","journal-title":"Bone"},{"key":"10.1016\/j.bone.2022.116634_bb0145","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1182\/bloodadvances.2016002345","article-title":"Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis","volume":"1","author":"Overholt","year":"2017","journal-title":"Blood Adv."},{"key":"10.1016\/j.bone.2022.116634_bb0150","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.bone.2017.01.012","article-title":"Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene","volume":"97","author":"Palagano","year":"2017","journal-title":"Bone"},{"key":"10.1016\/j.bone.2022.116634_bb0155","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/jbmr.1849","article-title":"SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity","volume":"28","author":"Pangrazio","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2022.116634_bb0160","doi-asserted-by":"crossref","first-page":"E1071","DOI":"10.1002\/humu.21167","article-title":"Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations","volume":"31","author":"Pangrazio","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bone.2022.116634_bb0165","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.048940","article-title":"Autosomal recessive osteopetrosis: mechanisms and treatments","volume":"14","author":"Penna","year":"2021","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.bone.2022.116634_bb0170","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1016\/S0140-6736(78)90704-3","article-title":"Bone-marrow transplantation in osteopetrosis","volume":"1","author":"Reeves","year":"1978","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2022.116634_bb0175","doi-asserted-by":"crossref","first-page":"e264","DOI":"10.3324\/haematol.2017.186304","article-title":"Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation","volume":"103","author":"Saultier","year":"2018","journal-title":"Haematologica"},{"key":"10.1016\/j.bone.2022.116634_bb0180","doi-asserted-by":"crossref","first-page":"3458","DOI":"10.1182\/blood.V99.9.3458","article-title":"HLA-haploidentical blood progenitor cell transplantation in osteopetrosis","volume":"99","author":"Schulz","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.bone.2022.116634_bb0185","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.27010","article-title":"Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning","volume":"65","author":"Shadur","year":"2018","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bone.2022.116634_bb0190","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1056\/NEJMc1206193","article-title":"Denosumab for post-transplantation hypercalcemia in osteopetrosis","volume":"367","author":"Shroff","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bone.2022.116634_bb0195","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0140-6736(83)91438-1","article-title":"Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis","volume":"1","author":"Sieff","year":"1983","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2022.116634_bb0200","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2013.137","article-title":"Osteopetrosis: genetics, treatment and new insights into osteoclast function","volume":"9","author":"Sobacchi","year":"2013","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.bone.2022.116634_bb0205","series-title":"GeneReviews((R))","article-title":"CLCN7-related osteopetrosis","author":"Sobacchi","year":"1993"},{"key":"10.1016\/j.bone.2022.116634_bb0210","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1016\/0002-9343(81)90839-1","article-title":"Marrow transplantation for juvenile osteopetrosis","volume":"70","author":"Sorell","year":"1981","journal-title":"Am. J. Med."},{"key":"10.1016\/j.bone.2022.116634_bb0215","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1182\/bloodadvances.2018025890","article-title":"Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years","volume":"3","author":"Stepensky","year":"2019","journal-title":"Blood Adv."},{"key":"10.1016\/j.bone.2022.116634_bb0220","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1097\/MPH.0000000000000228","article-title":"Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation","volume":"37","author":"Stepensky","year":"2015","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"10.1016\/j.bone.2022.116634_bb0225","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1046\/j.1365-2141.2003.04739.x","article-title":"Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis","volume":"124","author":"Steward","year":"2004","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bone.2022.116634_bb0230","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1172\/JCI30328","article-title":"Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans","volume":"117","author":"Van Wesenbeeck","year":"2007","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bone.2022.116634_bb0235","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1084\/jem.142.3.651","article-title":"Control of bone resorption by hematopoietic tissue. The induction and reversal of congenital osteopetrosis in mice through use of bone marrow and splenic transplants","volume":"142","author":"Walker","year":"1975","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.bone.2022.116634_bb0240","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1126\/science.1198094","article-title":"Spleen cells transmit osteopetrosis in mice","volume":"190","author":"Walker","year":"1975","journal-title":"Science"},{"key":"10.1016\/j.bone.2022.116634_bb0245","article-title":"Molecular insights into the human CLC-7\/Ostm1 transporter","volume":"6","author":"Zhang","year":"2020","journal-title":"Sci. Adv."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328222003118?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328222003118?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:05:19Z","timestamp":1757613919000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328222003118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":49,"alternative-id":["S8756328222003118"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2022.116634","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2022.116634","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"116634"}}