{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T20:05:52Z","timestamp":1783109152396,"version":"3.54.6"},"reference-count":69,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,1,5]],"date-time":"2010-01-05T00:00:00Z","timestamp":1262649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ultrastructural study of skin biopsies in two cases of Gaucher disease (GD) patients (types II and III) revealed hitherto unknown alteration of the blood capillary endothelial cells (ECs) featured by hypertrophy and numerous subplasmalemmal microvesicles underneath both the apical and basal membranes. There was also prominent apical membrane folding with formation of filiform and large cytoplasmic projections, with occasional transcapillary cytoplasmic bridges. Similar, though less frequently expressed, changes were manifested at the basal membrane by numerous cytoplasmic projections into the subendothelial space. Regressive changes with EC breakdown were rare. Lysosomal storage was always absent. Besides EC hypertrophy, there was also increased EC density in the capillary lumen, leading to pronounced changes in capillary architecture with loose or incomplete EC anchoring. There were also signs of EC sprouting. Some pericytes displayed an increase in size and number of cytoplasmic processes, which often extended into distant pericapillary regions. The spectrum of changes suggests that a significant positive growth effect on EC occurs in GD. The putative mechanisms triggered by GBA1 deficiency leading to EC involvement are discussed. The authors are well aware of the fact the results, based on a nontraditional type of bioptic samples, are preliminary, but they are worth following, as further ultrastructural and functional studies of blood endothelium in GD may open a novel field in molecular cell pathophysiology of the disorder: endothelial dysfunction.<\/jats:p>","DOI":"10.1007\/s10545-009-9018-5","type":"journal-article","created":{"date-parts":[[2010,1,4]],"date-time":"2010-01-04T09:51:19Z","timestamp":1262598679000},"page":"69-78","source":"Crossref","is-referenced-by-count":11,"title":["Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries"],"prefix":"10.1002","volume":"33","author":[{"given":"Helena","family":"H\u016flkov\u00e1","sequence":"first","affiliation":[{"name":"1st Faculty of Medicine and General Teaching Hospital, Institute of Inherited Metabolic Disorders Charles University in Prague Ke Karlovu 2, Bldg. D Praha 2 12000 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Poup\u011btov\u00e1","sequence":"additional","affiliation":[{"name":"1st Faculty of Medicine and General Teaching Hospital, Institute of Inherited Metabolic Disorders Charles University in Prague Ke Karlovu 2, Bldg. D Praha 2 12000 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Harzer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Development Universit\u00e4ts\u2010Kinderklinik T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramod","family":"Mistry","sequence":"additional","affiliation":[{"name":"Section of Pediatric Hepatology and Gastroenterology, Department of Pediatrics and Medicine Yale School of Medicine New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes M. F. G.","family":"Aerts","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Academic Medical Center University of Amsterdam Amsterdam 1105 AZ The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Elleder","sequence":"additional","affiliation":[{"name":"1st Faculty of Medicine and General Teaching Hospital, Institute of Inherited Metabolic Disorders Charles University in Prague Ke Karlovu 2, Bldg. D Praha 2 12000 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3233\/CH-2008-1121"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80034-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/10739680591003297"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000182903.16652.d7"},{"key":"e_1_2_9_6_1","first-page":"3635","volume-title":"The metabolic and molecular bases of inherited disease","author":"Beutler E","year":"2001"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M610544200"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1309\/BG5VA8JRDQH1M7HN"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0098-2997(02)00096-1"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310611"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.5858\/2008-132-851-GDROTL"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvn349"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02109.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.05.005"},{"key":"e_1_2_9_15_1","volume-title":"Gaucher disease: a century of delineation and research","author":"Desnick RJ","year":"1982"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-003-0784-3"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/10623320490512093"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/15227950500405296"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000043901.45141.D4"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2003.tb00222.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0411-z"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001218)95:5<429::AID-AJMG4>3.0.CO;2-6"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.01.002"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0959-9673.2004.00404.x"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.107.143511"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2007.12.001"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1984.tb04731.x"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2007.11.004"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(72)90094-2"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M800092-JLR200"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1999.0256"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1997.0137"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.d01-2076.x"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117160"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)39184-7"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00589.x"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.0000073832.49290.B5"},{"key":"e_1_2_9_38_1","first-page":"177","volume-title":"Gaucher disease: a century of delineation and research","author":"Lee RE","year":"1982"},{"key":"e_1_2_9_39_1","first-page":"197","volume-title":"Gaucher disease","author":"Lee RE","year":"2007"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-6143.2005.01102.x"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2007.06514.x"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(80)80389-6"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20117"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(96)00056-7"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1699-0463.1997.tb00590.x"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1681.2008.04984.x"},{"key":"e_1_2_9_47_1","volume-title":"Functional ultrastructure. An atlas of tissue biology and pathology","author":"Pavelka M","year":"2005"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.150.4.7921438"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004280050100"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1177\/10454411950060030501"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2675"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/386671a0"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-9419"},{"key":"e_1_2_9_54_1","first-page":"842","article-title":"Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings","volume":"81","author":"Sherer DM","year":"1993","journal-title":"Obstet Gynecol"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-4362.2002.01492_1.x"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199210000-00023"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513810701563751"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200315"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1827.1997.tb03725.x"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1159\/000117103"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-3083.2002.00477.x"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(93)90090-N"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp263"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M600303-MCP200"},{"key":"e_1_2_9_65_1","first-page":"204","article-title":"Manifestations of diabetes mellitus\u2013their possible relationships to an underlying cell defect. A review","volume":"75","author":"Vracko R","year":"1974","journal-title":"Am J Pathol"},{"key":"e_1_2_9_66_1","doi-asserted-by":"crossref","first-page":"77","DOI":"10.55782\/ane-2003-1457","article-title":"New vessel formation after surgical brain injury in the rat's cerebral cortex II. Formation of the blood vessels distal to the surgical injury","volume":"63","author":"Walski M","year":"2003","journal-title":"Acta Neurobiol Exp (Wars)"},{"key":"e_1_2_9_67_1","first-page":"587","volume-title":"Techniques in diagnostic human biochemical genetics","author":"Wenger D","year":"1991"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOL.0b013e3282a66082"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI29224"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0185(199809)252:1<49::AID-AR6>3.0.CO;2-9"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9018-5","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-9018-5","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9018-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T12:39:19Z","timestamp":1711111159000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-9018-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,5]]},"references-count":69,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1007\/s10545-009-9018-5"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-9018-5","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,5]]}}}