{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:03:22Z","timestamp":1771002202883,"version":"3.50.1"},"reference-count":0,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,10,25]],"date-time":"2007-10-25T00:00:00Z","timestamp":1193270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Niemann\u2013Pick disease type A (NP\u2010A; OMIM 257200) is an autosomal recessive lysosomal storage disorder caused by deficiency of acid sphingomyelinase and resulting in accumulation of sphingomyelin, unesterified cholesterol, and other complex lipids in many tissues. It is characterized by failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative course culminating in death by 3 years of age. There is no known effective treatment. We report the case of a prenatally diagnosed girl who underwent cord blood stem cell transplantation (CBSCT) at 3 months of age. She was neurologically intact at the time of CBSCT. Hepatosplenomegaly, was detected at 6 weeks of age; the splenomegaly resolved following CBSCT. Recovery was complicated by graft\u2010versus\u2010host disease. She subsequently developed and continues to show marked global developmental delay, generalized hypotonia, and signs of neurological regression, despite continued engraftment. Bilateral cherry red spots were detected at 10 months of age, 7 months post\u2010CBSCT. Although she is doing better than her affected brother, she shows little overall benefit from CBSCT.<\/jats:p>","DOI":"10.1007\/s10545-007-0700-1","type":"journal-article","created":{"date-parts":[[2007,10,24]],"date-time":"2007-10-24T05:38:23Z","timestamp":1193204303000},"page":"987-987","source":"Crossref","is-referenced-by-count":11,"title":["Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann\u2013Pick disease type A"],"prefix":"10.1002","volume":"30","author":[{"given":"C. F.","family":"Morel","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children 555 University Avenue Toronto Ontario M5G 1X8 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gassas","sequence":"additional","affiliation":[{"name":"Division of Haematology and Oncology, Blood and Marrow Transplant Program The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Doyle","sequence":"additional","affiliation":[{"name":"Division of Haematology and Oncology, Blood and Marrow Transplant Program The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. T. R.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children 555 University Avenue Toronto Ontario M5G 1X8 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,10,25]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0700-1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0700-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:43:40Z","timestamp":1694753020000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0700-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,25]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1007\/s10545-007-0700-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0700-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,25]]}}}