{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:02:33Z","timestamp":1790809353171,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T00:00:00Z","timestamp":1551225600000},"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":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Farber disease (FD) is a rare, lysosomal storage disorder caused by deficient acid ceramidase activity. FD has long been considered a fatal disorder with death in the first three decades of life resulting either from respiratory insufficiency as a consequence of airway involvement or from progressive neurodegeneration because of nervous system involvement. Peripheral symptoms associated with FD, including inflammatory joint disease, have been described to improve relatively rapidly after hematopoietic cell transplantation (HCT).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>To evaluate the disease\u2010specific status and limitations in the long\u2010term follow\u2010up after HCT, investigate genotype\/phenotype correlations and the benefit of allogeneic HCT in FD patients with nervous system involvement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and methods<\/jats:title>\n                    <jats:p>\n                      Transplant\u2010 and disease\u2010related information of ten FD patients was obtained by using a questionnaire, physicians' letters and additional telephone surveys.\n                      <jats:italic>ASAH1<\/jats:italic>\n                      gene mutations were identified to search for genotype\/phenotype correlations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      After mainly busulfan\u2010based preparative regimens, all patients engrafted with one late graft loss. The inflammatory symptoms resolved completely in all patients. Abnormal neurologic findings were present pre\u2010transplant in 4\/10 patients, post\u2010transplant in 6\/10 patients. Mutational analyses revealed new mutations in the\n                      <jats:italic>ASAH1<\/jats:italic>\n                      gene and a broad diversity of phenotypes without a genotype\/phenotype correlation. With a median follow\u2010up of 10.4 years, overall survival was 80% with two transplant\u2010related deaths.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Allogeneic HCT leads to complete and persistent resolution of the inflammatory aspects in FD patients. It appears to have no beneficial effect on progression of nervous system involvement. New mutations in the acid ceramidase gene were identified. A genotype\/phenotype correlation could not be established.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jimd.12043","type":"journal-article","created":{"date-parts":[[2019,2,28]],"date-time":"2019-02-28T01:50:48Z","timestamp":1551318648000},"page":"286-294","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Allogeneic hematopoietic cell transplantation in Farber disease"],"prefix":"10.1002","volume":"42","author":[{"given":"Karoline","family":"Ehlert","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, University Medicine Greifswald, Ferdinand Sauerbruch\u2010Strasse  D\u201017475 Greifswald Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[{"name":"Cancer Research Centre of Toulouse, INSERM UMR1037  Toulouse France"},{"name":"Laboratoire de Biochimie, Institut F\u00e9d\u00e9ratif de Biologie CHU Toulouse  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Department Unit of Rare Diseases Gaslini Institute  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Lanino","sequence":"additional","affiliation":[{"name":"Department Unit of Rare Diseases Gaslini Institute  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael H.","family":"Albert","sequence":"additional","affiliation":[{"name":"Department of Stem Cell Transplantation, Children's Hospital at Dr von Haunersches Kinderspital University of M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"F\u00fchrer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Palliative Care, Children's Hospital at Dr von Haunersches Kinderspita  University of M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Jarisch","sequence":"additional","affiliation":[{"name":"Department for Children and Adolescents, Division for Stem Cell Transplantation and Immunology University Hospital Frankfurt  Frankfurt am Main Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayfun","family":"G\u00fcng\u00f6r","sequence":"additional","affiliation":[{"name":"Department of Stem Cell Transplantation University Children's Hospital Z\u00fcrich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Ayuk","sequence":"additional","affiliation":[{"name":"Department of Stem Cell Transplantation University Hospital Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Vormoor","sequence":"additional","affiliation":[{"name":"Northern Institute for Cancer Research Newcastle University  Newcastle upon Tyne UK"},{"name":"Great North Children's Hospital Newcastle upon Tyne Hospitals NHS Foundations Trust  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81106-3"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(86)90082-2"},{"key":"e_1_2_9_4_1","volume-title":"Acid Ceramidase Deficiency: Farber Lipogranulomatosis. 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