{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:05:39Z","timestamp":1792166739631,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mucolipidosis (ML) II alpha\/beta is an autosomal recessive disease caused by reduced enzyme activity of N\u2010acetylglucosamine\u20101\u2010phosphotransferase. Clinical symptoms of ML II are severe psychomotor delay and dysostosis multiplex; death usually occurs by 5\u20138 years of age from cardiopulmonary complications. Allogeneic hematopoietic stem cell transplantation (HSCT) has been attempted for ML; however, few reports have documented the detailed outcomes of HSCT for ML. A 26\u2010month\u2010old girl received a human leukocyte antigen 3\/6\u2010allele\u2010matched transplant from cord blood. The preparative regimen consisted of fludarabine, cyclophosphamide, 6\u2010Gy total body irradiation, and rabbit antithymocyte globulin. Although comparing before and after cord blood transplantation results, we observed that lysosomal enzyme activities in the plasma decreased by approximately 20\u201340%. Low serum levels of immunoglobulin A, G2, and G4 were also observed before HSCT; however, these values normalized after transplantation. Despite undergoing HSCT, she was treated twice for bacterial pneumonia with acute respiratory distress syndrome at ages 37 and 38 months. Although HSCT effects on the clinical manifestations were limited, laboratory data including plasma lysosomal enzyme activities and serum levels of immunoglobulin showed improvement. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37563","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T23:18:54Z","timestamp":1453331934000},"page":"1278-1282","source":"Crossref","is-referenced-by-count":10,"title":["Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha\/beta"],"prefix":"10.1002","volume":"170","author":[{"given":"Takumi","family":"Shibazaki","sequence":"first","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Hirabayashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School 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