{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T19:16:23Z","timestamp":1780773383760,"version":"3.54.1"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,8,9]],"date-time":"2018-08-09T00:00:00Z","timestamp":1533772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type <jats:styled-content style=\"fixed-case\">VII<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">MPS VII<\/jats:styled-content>) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme \u03b2\u2010glucuronidase. We describe a case of a 2\u2010year\u2010old female affected by a moderate form of <jats:styled-content style=\"fixed-case\">MPS VII<\/jats:styled-content> and submitted twice to HSCT with the aim of stabilizing skeletal problems and preventing neurocognitive alterations. The child underwent a second transplantation due to the rejection of the graft after a reduced\u2010intensity conditioning in the first transplant. A myeloablative regimen allowed to achieve a stable full donor engraftment and normal enzyme levels during the 6\u00a0years of follow\u2010up. Clinically, we observed stabilization of skeletal deformities and normal neurocognitive development. This is one of the few reports of mucopolysaccharidosis type <jats:styled-content style=\"fixed-case\">VII<\/jats:styled-content> treated with allogeneic HSCT.<\/jats:p>","DOI":"10.1111\/petr.13278","type":"journal-article","created":{"date-parts":[[2018,8,9]],"date-time":"2018-08-09T07:36:31Z","timestamp":1533800191000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Haematopoietic stem cell transplantation for mucopolysaccharidosis type <scp>VII<\/scp>: A case report"],"prefix":"10.1111","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8352-818X","authenticated-orcid":false,"given":"Luisa","family":"Sisinni","sequence":"first","affiliation":[{"name":"Pediatric Hematology Oncology and HSCT Unit Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Pineda","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Department Hospital Sant Joan de D\u00e8u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Josep","family":"Coll","sequence":"additional","affiliation":[{"name":"Biochemical and Molecular Genetics Department Inborn Errors of Metabolism (IBC) Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Gort","sequence":"additional","affiliation":[{"name":"Biochemical and Molecular Genetics Department Inborn Errors of Metabolism (IBC) Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eulalia","family":"Turon","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Department Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Torrent","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Oncology and HSCT Unit Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ey","sequence":"additional","affiliation":[{"name":"Pediatric Traumatology Hospital Sant Joan de D\u00e8u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Tobajas","sequence":"additional","affiliation":[{"name":"Pediatric Psychology Department Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Badell","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Oncology and HSCT Unit Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,9]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"3421","volume-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker396"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(93)90031-X"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80162-3"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker394"},{"key":"e_1_2_7_7_1","unstructured":"QuintonBA SlyWS McAlisterWH RimoinDL HallCW NeufeldEF.\u0392\u2010Glucuronidase deficiency: A new mucopolysaccharide storage deficiency. 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