{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:44:22Z","timestamp":1790423062201,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"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":[[2005,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Type B Niemann\u2010Pick disease (NPD) is a nonneuronopathic lysosomal storage disorder which is characterized by accumulation of sphingomyelin\u2010laden macrophages. The availability of plasma markers for storage cells may be of great value in facilitating therapeutic decisions. Given the similarity of the storage cells in NPD and Gaucher disease, we studied Gaucher plasma markers (chitotriosidase and CCL18) in two siblings homozygous for the R228C mutation in acid sphingomyelinase (ASM) and a type B course of NPD. The older sibling, first examined at the age of 9 months, showed marked hepatosplenomegaly and pulmonary involvement. The younger sibling has mild asymptomatic hepatosplenomgaly at the age of 5 months. Analysis of plasma specimens revealed markedly increased levels of chitotriosidase and CCL18 in the older sibling. In the younger child also, plasma chitotriosidase and CCL18 were clearly elevated above normal values almost immediately after birth and rapidly increased further. Histochemistry confirmed production of CCL18 by foam cells. In conclusion, plasma chitotriosidase and CCL18 may also serve as markers for the formation of pathological lipid\u2010laden macrophages in type B NPD, in analogy to Gaucher disease. The availability of sensitive plasma surrogate markers may be of great value for monitoring the efficacy of enzyme supplementation therapy that is currently being developed.<\/jats:p>","DOI":"10.1007\/s10545-005-4416-9","type":"journal-article","created":{"date-parts":[[2005,2,8]],"date-time":"2005-02-08T17:14:47Z","timestamp":1107882887000},"page":"13-20","source":"Crossref","is-referenced-by-count":75,"title":["Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann\u2010Pick disease"],"prefix":"10.1002","volume":"28","author":[{"given":"J.","family":"Brinkman","sequence":"first","affiliation":[{"name":"Department of Paediatrics Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. A.","family":"Wijburg","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. E.","family":"Hollak","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. E.","family":"Groener","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Verhoek","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Scheij","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Aten","sequence":"additional","affiliation":[{"name":"Department of Pathology Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. G.","family":"Boot","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M.","family":"Aerts","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Emma Children's Hospital AMC Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2003.1273"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301804200"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.44.26252"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.40.25680"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.19.3.687"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1612"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(80)90487-5"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799265"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02436762"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117084"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012492429191"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.00-0014com"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V96.5.1969"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1989.tb08382.x"},{"key":"e_1_2_1_17_1","unstructured":"SchuchmanEH DesnickRJ(1995)Niemann\u2010Pick disease types A and B: acid sphinogmyelinase deficiencies.The Metabolic Basis of Inherited Disease 3589\u20133610."},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/345074"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(83)90218-7"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80356-0"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00192120"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-4416-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-4416-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:47:25Z","timestamp":1694742445000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-4416-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1007\/s10545-005-4416-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-4416-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1]]}}}