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Engraftment was based on cytogenetic studies and increased leukocyte acid sphingomyelinase (ASM) activity. However, liver biopsies taken up to 33 months post transplantation showed only a moderate reduction in stored sphingomyelin and no significant increase in ASM activity. The post\u2010transplantation period was complicated by severe graft\u2010versus\u2010host disease and a respiratory arrest. By 6 years of age, neurological involvement was observed, including bilateral cherry red spots. The proband is now severely mentally and physically disabled. Liver cirrhosis has continued to progress despite the BMT, and haematemesis due to portal hypertension occurred at 17 years of age. However, pulmonary infiltration regressed after BMT and there has been no clinical evidence of pulmonary insufficiency.<\/jats:p>","DOI":"10.1023\/b:boli.0000009950.81514.c8","type":"journal-article","created":{"date-parts":[[2003,12,23]],"date-time":"2003-12-23T10:36:49Z","timestamp":1072175809000},"page":"775-785","source":"Crossref","is-referenced-by-count":61,"title":["Niemann\u2013Pick disease: Sixteen\u2010year follow\u2010up of allogeneic bone marrow transplantation in a type B variant"],"prefix":"10.1002","volume":"26","author":[{"given":"S.","family":"Victor","sequence":"first","affiliation":[{"name":"Royal Liverpool Children's NHS Trust  Liverpool"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. B. 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