{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:43:57Z","timestamp":1792147437930,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T00:00:00Z","timestamp":1245974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["MSM 0021620806"],"award-info":[{"award-number":["MSM 0021620806"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a female patient with Gaucher disease (GD) type I on ERT (imiglucerase) for 5 years, which led to a significant general improvement. Aged 59 years she underwent an episode of altitude sickness followed by sepsis, disseminated intravascular coagulation, and multiorgan failure. She succumbed to a cerebral haemorrhage. Autopsy revealed liver cholestatic cirrhosis and multifocal liver carcinoma with immunophenotype compatible with cholangiocarcinoma. Analysis of the storage process revealed its absence or very low levels in the majority of liver and spleen macrophages. Gaucher cells (GCs) were seen only as occasional aggregates of various sizes in these organs. GCs were seen also in the leptomeninx of the cerebellum and as infrequent perivascular clusters in both the grey and white cerebral matters. Bone marrow was heavily infiltrated with GCs, especially in the adipocyte\u2010rich part. GCs in this location displayed varied degrees of cytoplasmic vacuolation unrelated to the lysosomal compartment, caused by droplets of triglyceride, and interpreted as due to resorption of fragments of altered white adipocytes. All these observations point to the relative efficacy of ERT in covering the standard substrate load, which should not be exceeded as it would lead to the evolution of mature GCs. The results are discussed in relation to our recently published hypothesis on GD cell pathology.<\/jats:p>","DOI":"10.1007\/s10545-009-1178-9","type":"journal-article","created":{"date-parts":[[2009,6,25]],"date-time":"2009-06-25T15:23:32Z","timestamp":1245943412000},"page":"551-559","source":"Crossref","is-referenced-by-count":16,"title":["Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process"],"prefix":"10.1002","volume":"32","author":[{"given":"H.","family":"H\u016flkov\u00e1","sequence":"first","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague Bldg.D, Division B; Ke Karlovu 2 Prague 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Ledvinov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague Bldg.D, Division B; Ke Karlovu 2 Prague 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Poup\u011btov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague Bldg.D, Division B; Ke Karlovu 2 Prague 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kohout","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine in Hradec Kr\u00e1lov\u00e9 and University Hospital Charles University in Prague Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Malinov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine and University Hospital Charles University in Prague Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Elleder","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague Bldg.D, Division B; Ke Karlovu 2 Prague 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,6,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218386"},{"key":"e_1_2_9_3_1","first-page":"381","volume-title":"Lysosomes and storage Storage diseasesDiseases","author":"Brady RO","year":"1973"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197411072911901"},{"issue":"3","key":"e_1_2_9_5_1","first-page":"126, 129","article-title":"Coincidence of Gaucher disease with primary hepatocellular carcinoma]","volume":"21","author":"Breiden\u2010Langen CM","year":"1991","journal-title":"Leber Magen Darm"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687792"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02109.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90168-0"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1982.00510210020005"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.08.004"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.05.005"},{"key":"e_1_2_9_12_1","volume-title":"Progress in Clinical and Biological Research. 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