{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:29:52Z","timestamp":1790713792022,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:00:00Z","timestamp":1671753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gaucher disease (GD) is a lysosomal storage disorder, characterized by hepatosplenomegaly, pancytopenia, bone diseases, with or without neurological symptoms. Plasma glucosylsphingosine (lyso\u2010Gb1), a highly sensitive and specific biomarker for GD, has been used for diagnosis and monitoring the response to treatment. Enzyme replacement therapy (ERT) is an effective treatment for the non\u2010neurologic symptoms of GD. Neuronopathic GD (type 2 and 3) accounts for 60%\u201370% of the Asian affected population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We explored combination therapy of ERT followed by hematopoietic stem cell transplantation (HSCT) and its long\u2010term outcomes in patients with GD type 3 (GD3).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four patients with GD3 and one with GD type 1 (GD1) underwent HSCT. The types of donor were one matched\u2010related, one matched\u2010unrelated, and three haploidentical. The age at disease onset was 6\u201318\u00a0months and the age at HSCT was 3.8\u201315\u00a0years in the patients with GD3. The latest age at follow\u2010up was 8\u201322\u00a0years, with a post\u2010HSCT duration of 3\u201314\u00a0years. All patients had successful HSCT. Chronic graft\u2010versus\u2010host disease occurred in one patient. The enzyme activities were normalized at 2\u00a0weeks post HSCT. Lyso\u2010Gb1 concentrations became lower than the pathological value. All of the patients are still alive and physically independent. Most of them (4\/5) returned to school. None of the patients with GD3 had seizures or additional neurological symptoms after HSCT, but showed varying degrees of cognitive impairment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>ERT followed by HSCT could be considered as an alternative treatment for patients with GD3 who have a high risk of fatal neurological progression.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.30149","type":"journal-article","created":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T12:54:08Z","timestamp":1671800048000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Comprehensive and long\u2010term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3"],"prefix":"10.1002","volume":"70","author":[{"given":"Usanarat","family":"Anurathapan","sequence":"first","affiliation":[{"name":"Division of Hematology and Oncology Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thipwimol","family":"Tim\u2010Aroon","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wujuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cinicnnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Watinee","family":"Sanpote","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Lampang Hospital  Lampang Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siranee","family":"Wongrungsri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Lampang Hospital  Lampang Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitcha","family":"Khunin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somchai","family":"Chutipongtanate","sequence":"additional","affiliation":[{"name":"Department of Environmental and Public Health Sciences University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vilawan","family":"Chirdkiatgumchai","sequence":"additional","affiliation":[{"name":"Division of Developmental and Behavioral Pediatrics Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukana","family":"Ngiwsara","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry Chulabhorn Research Institute  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suphaneewan","family":"Jaovisidha","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Therapeutic Radiology Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthaporn","family":"Khongkraparn","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8118-163X","authenticated-orcid":false,"given":"Samart","family":"Pakakasama","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology Department of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2217-4517","authenticated-orcid":false,"given":"Jisnuson","family":"Svasti","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry Chulabhorn Research Institute  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth D. 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