{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T01:01:46Z","timestamp":1784682106967,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T00:00:00Z","timestamp":1750636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T00:00:00Z","timestamp":1750636800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["64165"],"award-info":[{"award-number":["64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>The outcomes of alpha\u2010mannosidosis after hematopoietic stem cell transplantation (HSCT) are incompletely described. This retrospective multi\u2010center study evaluated the outcomes of patients who underwent HSCT for their alpha\u2010mannosidosis after 2010. Twenty\u2010one children (11 females) with enzymatically and\/or genetically confirmed alpha\u2010mannosidosis, diagnosed at a mean age of 14\u2009months (0\u201360\u2009months), were included. The median age at HSCT was 3.9\u2009years (10\u2009months to 13.3\u2009years) with a median follow\u2010up of 2.3\u2009years (0.3\u201314.1\u2009years). Seventy\u2010four percent (14\/19) of patients received an unrelated graft while the rest had a matched sibling donor. Primary engraftment was reached in 17 of 21 patients; four patients required a second HSCT with successful subsequent engraftment. Nine patients had severe post\u2010HSCT infections, five patients developed acute graft\u2010versus\u2010host disease (GvHD) (&gt;\u2009=\u2009grade II), and one patient had chronic GvHD. No patient died during follow\u2010up. Seven out of ten patients received enzyme replacement therapy both pre\u2010 and post\u2010HSCT. Among children with clinical symptoms, improvement was documented in hepatomegaly (40% of patients before HSCT, down to 10% after), recurrent infections (62%\/30%), and hearing disorder (85%\/65%). In 13 patients with developmental data, outcomes after HSCT suggested at least mild delays persisted post\u2010HSCT in the majority (85%), with some trends of higher functioning with earlier treatment. Findings suggest HSCT has shown notable improvements in safety and is associated with clinical benefit in alpha\u2010mannosidosis. Neurodevelopmental findings require longer\u2010term study to account for phenotypic diversity.<\/jats:p>","DOI":"10.1002\/jimd.70047","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T02:48:53Z","timestamp":1750733333000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha\u2010Mannosidosis"],"prefix":"10.1002","volume":"48","author":[{"given":"Robert","family":"\u0160\u00e1h\u00f3","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders First Faculty of Medicine, Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Form\u00e1nkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology Second Faculty of Medicine, Charles University and Motol University Hospital  Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie B.","family":"Eisengart","sequence":"additional","affiliation":[{"name":"Division of Clinical Behavioral Neuroscience, Department of Pediatrics University of Minnesota Medical School  Minneapolis USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan Meldgaard","family":"Lund","sequence":"additional","affiliation":[{"name":"Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilie","family":"Videbaek","sequence":"additional","affiliation":[{"name":"Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berrak Bilginer","family":"G\u00fcrb\u00fcz","sequence":"additional","affiliation":[{"name":"Ankara Bilkent City Hospital Department of Pediatric Metabolism  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam\u0131k Ya\u015far","family":"\u00d6zbek","sequence":"additional","affiliation":[{"name":"Ankara Bilkent City Hospital, Health Sciences University Department of Pediatric Hematology\/Oncology and Pediatric Bone Marrow Transplantation Unit  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Al Jasmi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates and Department of Pediatrics, Tawam Hospital  Al Ain UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Je\u0161ina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders First Faculty of Medicine, Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Feillet","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Fili\u00e8re G2M  University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Pochon","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology Children's Hospital of Brabois  Vand\u0153uvre\u2010l\u00e8s\u2010Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Gu\u00e9mann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Reference Center of Inherited Metabolic Disorders H\u00f4pital Jeanne de Flandre  G2M sector, Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moeenaldeen","family":"AlSayed","sequence":"additional","affiliation":[{"name":"Department of Medical Genomics King Faisal Specialist Hospital and Research Centre  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Laktina","sequence":"additional","affiliation":[{"name":"Department of Biology and Microbiology R\u012bga Stradi\u0146\u0161 University  Riga Latvia"},{"name":"Clinic of Medical Genetics and Prenatal Diagnostics Children's Clinical University Hospital  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sema Kalkan","family":"U\u00e7ar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism Ege University Faculty of Medicine  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serap","family":"Aksoylar","sequence":"additional","affiliation":[{"name":"Division of Paediatric Hematology and Oncology, Pediatric BMT Unit Ege University Faculty of Medicine  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Troy C.","family":"Lund","sequence":"additional","affiliation":[{"name":"Division of Paediatic Blood and Marrow Transplantation University of Minnesota Medical School  Minneapolis USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul John","family":"Orchard","sequence":"additional","affiliation":[{"name":"Division of Paediatic Blood and Marrow Transplantation University of Minnesota Medical School  Minneapolis USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma Tuba","family":"Emino\u011flu","sequence":"additional","affiliation":[{"name":"Ankara University Rare Diseases Application and Research Center  Ankara T\u00fcrkiye"},{"name":"Ankara University Faculty of Medicine Department of Pediatric Metabolism  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talia","family":"\u0130leri","sequence":"additional","affiliation":[{"name":"Ankara University Faculty of Medicine, Department of Pediatric Hematology and Pediatric Bone Marrow Transplantation Unit  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara Bilkent City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akif","family":"Ye\u015filipek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Pediatric Stem Cell Transplantation Unit Medicalpark Antalya Hospital  Antalya T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Tun\u00e7","family":"Tuncel","sequence":"additional","affiliation":[{"name":"Heidelberg University, Medical Faculty of Heidelberg Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ansgar","family":"Schulz","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University Medical Center Ulm  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katar\u00edna","family":"Jur\u00ed\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Center for Inherited Metabolic Disorders, Department of Paediatrics National Institute of Children's Diseases and Faculty of Medicine, Comenius University in Bratislava  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hlavat\u00e1","sequence":"additional","affiliation":[{"name":"Center for Inherited Metabolic Disorders, Department of Paediatrics National Institute of Children's Diseases and Faculty of Medicine, Comenius University in Bratislava  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Santoro","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Clinical Sciences, Azienda Ospedaliero Universitaria delle Marche, Presidio Salesi  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5883-9509","authenticated-orcid":false,"given":"Martin","family":"Magner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Inherited Metabolic Disorders First Faculty of Medicine, Charles University and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,23]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"GeneReviews","author":"Ficicioglu C.","year":"1993"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20103\u201021"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310000545"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010013\u20109622\u20102"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002422\u20106"},{"issue":"1","key":"e_1_2_11_7_1","first-page":"185","article-title":"Alpha\u2010Mannosidosis\u2014a Review of Genetic, Clinical Findings and Options of Treatment","volume":"12","author":"Borgwardt L.","year":"2014","journal-title":"Pediatric 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