{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T18:18:52Z","timestamp":1773685132578,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,3,11]],"date-time":"2009-03-11T00:00:00Z","timestamp":1236729600000},"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":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Haemophagocytic lymphohistiocytosis (HLH) is a rare and rapidly progressive disease which, untreated, invariably leads to death. Gaucher disease is a rare lysosomal storage disorder. The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type II manifesting as HLH. Immunoblot revealed a deficiency of Munc 13\u20104, an intracellular protein responsible for docking of secretory lysosomes. This, and other possible pathogenetic mechanisms to explain the link are discussed.<\/jats:p>","DOI":"10.1007\/s10545-009-1091-2","type":"journal-article","created":{"date-parts":[[2009,3,6]],"date-time":"2009-03-06T14:30:53Z","timestamp":1236349853000},"page":"107-110","source":"Crossref","is-referenced-by-count":16,"title":["Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis"],"prefix":"10.1002","volume":"32","author":[{"given":"L.\u2010R.","family":"Sharpe","sequence":"first","affiliation":[{"name":"Department of Haematology Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Ancliff","sequence":"additional","affiliation":[{"name":"Department of Haematology Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Amrolia","sequence":"additional","affiliation":[{"name":"Department of Haematology Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. C.","family":"Gilmour","sequence":"additional","affiliation":[{"name":"Department of Immunology Great Ormond Street Hospital for Children NHS Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Vellodi","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, and Institute of Child Health London UK"},{"name":"Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust Great Ormond Street London WC1N 3JH UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3,11]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"3635","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Beutler E","year":"2001"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00855-9"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2005.00449.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V89.3.794"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21039"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-01-0172"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2006.21.4.733"},{"key":"e_1_2_4_9_1","doi-asserted-by":"crossref","unstructured":"JankaG zurStatdtU(2005)Familial and acquired hemophagocytic lymphohistiocytosis.Hematology Am Soc Hematol Educ Program82\u201388. doi:10.1182\/asheducation\u20102005.1.82.","DOI":"10.1182\/asheducation-2005.1.82"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443367"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2005.04.005"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214530"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.12.016"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi240"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.286.5446.1957"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi076"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1091-2","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1091-2","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1091-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:19:21Z","timestamp":1694747961000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1091-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,11]]},"references-count":15,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-1091-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1091-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,11]]}}}