{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:16:54Z","timestamp":1790691414068,"version":"4.1.0"},"reference-count":59,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["CZ.2.16\/3.1.00\/24509"],"award-info":[{"award-number":["CZ.2.16\/3.1.00\/24509"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30EY001931"],"award-info":[{"award-number":["P30EY001931"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32EY014537"],"award-info":[{"award-number":["T32EY014537"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015982","name":"Midwest Athletes Against Childhood Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015982","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajp.amjpathol.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Pathology"],"published-print":{"date-parts":[[2019,2]]},"DOI":"10.1016\/j.ajpath.2018.10.018","type":"journal-article","created":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T00:48:13Z","timestamp":1542934093000},"page":"320-338","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment"],"prefix":"10.1016","volume":"189","author":[{"given":"Fabian P.S.","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin S.","family":"Sajdak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub","family":"Sikora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4302-311X","authenticated-orcid":false,"given":"Alexander E.","family":"Salmon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murtaza S.","family":"Nagree","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159\u00ed","family":"Gurka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3351-9779","authenticated-orcid":false,"given":"Iris S.","family":"Kassem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel M.","family":"Lipinski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey A.","family":"Medin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajpath.2018.10.018_bib1","series-title":"Acid Ceramidase Deficiency: Farber Lipogranulomatosis. Scriver's OMMBID (Online Metabolic and Molecular Bases of Inherited Diseases)","author":"Levade","year":"2014"},{"key":"10.1016\/j.ajpath.2018.10.018_bib2","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1016\/j.bbadis.2016.05.001","article-title":"Acid ceramidase and the treatment of ceramide diseases: the expanding role of enzyme replacement therapy","volume":"1862","author":"Schuchman","year":"2016","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.ajpath.2018.10.018_bib3","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1038\/gim.2017.133","article-title":"A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features","volume":"20","author":"Zielonka","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.ajpath.2018.10.018_bib4","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1546-0096-5-15","article-title":"Farber disease: clinical presentation, pathogenesis and a new approach to treatment","volume":"5","author":"Ehlert","year":"2007","journal-title":"Pediatr Rheumatol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib5","first-page":"54","article-title":"A case report of childhood Farber's disease and literature review","volume":"55","author":"Bao","year":"2017","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.ajpath.2018.10.018_bib6","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1476-511X-9-15","article-title":"Ceramide and ceramide 1-phosphate in health and disease","volume":"9","author":"Arana","year":"2010","journal-title":"Lipids Health Dis"},{"key":"10.1016\/j.ajpath.2018.10.018_bib7","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1007\/978-1-4614-0631-0_70","article-title":"Ceramide signaling in retinal degeneration","volume":"723","author":"Chen","year":"2012","journal-title":"Retin Degenerative Dis"},{"key":"10.1016\/j.ajpath.2018.10.018_bib8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/nrm.2017.107","article-title":"Sphingolipids and their metabolism in physiology and disease","volume":"19","author":"Hannun","year":"2017","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib9","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1001\/archopht.1966.00970050754007","article-title":"Retinopathy in a case of Farber's lipogranulomatosis","volume":"75","author":"Cogan","year":"1966","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib10","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/0002-9343(69)90202-2","article-title":"Farber's lipogranulomatosis: report of a case and demonstration of an excess of free ceramide and ganglioside","volume":"47","author":"Moser","year":"1969","journal-title":"Am J Med"},{"key":"10.1016\/j.ajpath.2018.10.018_bib11","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1001\/archopht.1988.01060140323008","article-title":"Increased levels of ceramide in the retina of a patient with Farber's disease","volume":"106","author":"Zarbin","year":"1988","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib12","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ejpn.2010.06.002","article-title":"Farber lipogranulomatosis type 1\u2013late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation","volume":"15","author":"Cvitanovic-Sojat","year":"2011","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib13","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1111\/j.1651-2227.1958.tb07665.x","article-title":"Disseminated lipogranulomatosis (Farber's disease)","volume":"47","author":"Zetterstr\u00f6m","year":"1958","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.ajpath.2018.10.018_bib14","first-page":"135","article-title":"Farber's disease (disseminated lipogranulomatosis) a pathological, histochemical and ultrastructural study","volume":"29","author":"Tanaka","year":"1979","journal-title":"Pathol Int"},{"key":"10.1016\/j.ajpath.2018.10.018_bib15","first-page":"502","article-title":"Farber's disease","volume":"39","author":"Chandwani","year":"2002","journal-title":"Indian Pediatr"},{"key":"10.1016\/j.ajpath.2018.10.018_bib16","doi-asserted-by":"crossref","first-page":"3420","DOI":"10.1167\/iovs.05-0038","article-title":"Impaired neurite outgrowth in the retina of a murine model of Sandhoff disease","volume":"46","author":"Sango","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib17","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.bbrc.2015.06.133","article-title":"Acid sphingomyelinase (aSMase) deficiency leads to abnormal microglia behavior and disturbed retinal function","volume":"464","author":"Dannhausen","year":"2015","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ajpath.2018.10.018_bib18","doi-asserted-by":"crossref","first-page":"e0133032","DOI":"10.1371\/journal.pone.0133032","article-title":"Lack of acid sphingomyelinase induces age-related retinal degeneration","volume":"10","author":"Wu","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2018.10.018_bib19","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ajpath.2015.09.017","article-title":"Retinal dystrophy and optic nerve pathology in the mouse model of mucolipidosis IV","volume":"186","author":"Grishchuk","year":"2016","journal-title":"Am J Pathol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib20","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/emmm.201202301","article-title":"Systemic ceramide accumulation leads to severe and varied pathological consequences","volume":"5","author":"Alayoubi","year":"2013","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.ajpath.2018.10.018_bib21","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1016\/j.ajpath.2016.12.005","article-title":"Acid ceramidase deficiency in mice results in a broad range of central nervous system abnormalities","volume":"187","author":"Sikora","year":"2017","journal-title":"Am J Pathol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib22","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1152\/ajplung.00223.2017","article-title":"Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency","volume":"314","author":"Yu","year":"2017","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib23","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1007\/978-3-642-14366-3_6","article-title":"Registration of 2D images from fast scanning ophthalmic instruments","volume":"6204","author":"Dubra","year":"2010","journal-title":"Biomed Image Registration"},{"key":"10.1016\/j.ajpath.2018.10.018_bib24","doi-asserted-by":"crossref","first-page":"19413","DOI":"10.1364\/OE.18.019413","article-title":"Automatic segmentation of seven retinal layers in SDOCT images congruent with expert manual segmentation","volume":"18","author":"Chiu","year":"2010","journal-title":"Opt Express"},{"key":"10.1016\/j.ajpath.2018.10.018_bib25","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/0003-3472(65)90040-0","article-title":"The visual cliff test for the study of visual depth perception in the mouse","volume":"13","author":"Fox","year":"1965","journal-title":"Anim Behav"},{"key":"10.1016\/j.ajpath.2018.10.018_bib26","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1038\/s41598-018-20052-6","article-title":"Deletion of MCP-1 impedes pathogenesis of acid ceramidase deficiency","volume":"8","author":"Yu","year":"2018","journal-title":"Sci Rep"},{"key":"10.1016\/j.ajpath.2018.10.018_bib27","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/0887-8994(86)90082-2","article-title":"Farber lipogranulomatosis: an unusual presentation in a black child","volume":"2","author":"Eviatar","year":"1986","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib28","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1001\/archopht.1985.01050010077025","article-title":"Farber's disease: light and electron microscopic study of the eye","volume":"103","author":"Zarbin","year":"1985","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib29","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1001\/archopht.1968.03850040439013","article-title":"The sphingolipidoses and the eye","volume":"79","author":"Cogan","year":"1968","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib30","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1001\/archopht.1980.01020031079014","article-title":"Sandhoff's disease (Gm2 gangliosidosis type 2): histopathology and ultrastructure of the eye","volume":"98","author":"Brownstein","year":"1980","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib31","doi-asserted-by":"crossref","first-page":"34","DOI":"10.3928\/01913913-20100106-08","article-title":"Clinical and histologic ocular findings in pompe disease","volume":"47","author":"Yanovitch","year":"2010","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.1016\/j.ajpath.2018.10.018_bib32","doi-asserted-by":"crossref","first-page":"162","DOI":"10.3324\/haematol.2014.108530","article-title":"Markedly perturbed hematopoiesis in acid ceramidase deficient mice","volume":"100","author":"Dworski","year":"2015","journal-title":"Haematologica"},{"key":"10.1016\/j.ajpath.2018.10.018_bib33","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/j.bbadis.2016.11.031","article-title":"Acid ceramidase deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy","volume":"1863","author":"Dworski","year":"2017","journal-title":"Biochim Biophys Acta Mol Cell Biol Lipids"},{"key":"10.1016\/j.ajpath.2018.10.018_bib34","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1590\/S0004-27492012000200016","article-title":"Experimental models of autoimmune inflammatory ocular diseases","volume":"75","author":"Gasparin","year":"2012","journal-title":"Arq Bras Oftalmol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib35","doi-asserted-by":"crossref","first-page":"e63904","DOI":"10.1371\/journal.pone.0063904","article-title":"Use of optical coherence tomography and electroretinography to evaluate retinal pathology in a mouse model of autoimmune uveitis","volume":"8","author":"Chen","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2018.10.018_bib36","doi-asserted-by":"crossref","first-page":"2568","DOI":"10.1167\/iovs.09-4769","article-title":"Evaluation of experimental autoimmune uveitis in mice treated with FTY720","volume":"51","author":"Commodaro","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib37","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0896-8411(90)90144-H","article-title":"Pathology of experimental autoimmune uveoretinitis in mice","volume":"3","author":"Chan","year":"1990","journal-title":"J Autoimmun"},{"key":"10.1016\/j.ajpath.2018.10.018_bib38","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000119871","article-title":"Mouse models of experimental autoimmune uveitis","volume":"40","author":"Caspi","year":"2008","journal-title":"Ophthalmic Res"},{"key":"10.1016\/j.ajpath.2018.10.018_bib39","first-page":"267","article-title":"Canine herpes-induced retinal dysplasia and associated ocular anomalies","volume":"15","author":"Albert","year":"1976","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib40","first-page":"325","article-title":"Retinal neoplasia and dysplasia, I: induction by feline leukemia virus","volume":"16","author":"Albert","year":"1977","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib41","first-page":"571","article-title":"Sindbis virus-induced ocular immunopathology","volume":"22","author":"Carreras","year":"1982","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib42","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.pharmthera.2006.04.004","article-title":"Bioactive sphingolipids in the modulation of the inflammatory response","volume":"112","author":"El Alwani","year":"2006","journal-title":"Pharmacol Ther"},{"key":"10.1016\/j.ajpath.2018.10.018_bib43","first-page":"5758","article-title":"Crosslink between lipids and uveitis: a lipidomic analysis","volume":"58","author":"Wang","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib44","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/nri2400","article-title":"The alliance of sphingosine-1-phosphate and its receptors in immunity","volume":"8","author":"Rivera","year":"2008","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib45","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1146\/annurev-immunol-020711-075011","article-title":"Sphingosine-1-phosphate and lymphocyte egress from lymphoid organs","volume":"30","author":"Cyster","year":"2012","journal-title":"Annu Rev Immunol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib46","first-page":"58","article-title":"Sphingolipid metabolites in inflammatory disease","volume":"510","author":"Maceyka","year":"2014","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib47","first-page":"1239","article-title":"Bioactive sphingolipids as mediators of ocular inflammation: observations in an animal model","volume":"53","author":"Chan","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib48","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajpath.2011.10.008","article-title":"Therapeutic dosing of fingolimod (FTY720) prevents cell infiltration, rapidly suppresses ocular inflammation, and maintains the blood-ocular barrier","volume":"180","author":"Copland","year":"2012","journal-title":"Am J Pathol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib49","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1006\/exer.1999.0777","article-title":"Effects of FTY720, a novel immunosuppressant, on experimental autoimmune uveoretinitis in rats","volume":"70","author":"Kurose","year":"2000","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.ajpath.2018.10.018_bib50","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1001\/archopht.126.10.1390","article-title":"Fingolimod (FTY720) as an acute rescue therapy for intraocular inflammatory disease","volume":"126","author":"Raveney","year":"2008","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajpath.2018.10.018_bib51","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1097\/00075200-200312000-00006","article-title":"Update on FTY720: review of mechanisms and clinical results","volume":"8","author":"Chueh","year":"2003","journal-title":"Curr Opin Organ Transplant"},{"key":"10.1016\/j.ajpath.2018.10.018_bib52","doi-asserted-by":"crossref","first-page":"5467","DOI":"10.1074\/jbc.M805186200","article-title":"FTY720 inhibits ceramide synthases and up-regulates dihydrosphingosine 1-phosphate formation in human lung endothelial cells","volume":"284","author":"Berdyshev","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajpath.2018.10.018_bib53","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1111\/j.1471-4159.2007.04525.x","article-title":"Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice","volume":"101","author":"Denny","year":"2007","journal-title":"J Neurochem"},{"key":"10.1016\/j.ajpath.2018.10.018_bib54","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1111\/ejn.13260","article-title":"Defective ceramide synthases in mice cause reduced amplitudes in electroretinograms and altered sphingolipid composition in retina and cornea","volume":"44","author":"Br\u00fcggen","year":"2016","journal-title":"Eur J Neurosci"},{"key":"10.1016\/j.ajpath.2018.10.018_bib55","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1111\/j.1471-4159.2006.03977.x","article-title":"Ceramide is the key mediator of oxidative stress-induced apoptosis in retinal photoreceptor cells","volume":"98","author":"Sanvicens","year":"2006","journal-title":"J Neurochem"},{"key":"10.1016\/j.ajpath.2018.10.018_bib56","doi-asserted-by":"crossref","first-page":"18706","DOI":"10.1073\/pnas.1007644107","article-title":"Inhibition of ceramide biosynthesis preserves photoreceptor structure and function in a mouse model of retinitis pigmentosa","volume":"107","author":"Strettoi","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2018.10.018_bib57","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1194\/jlr.M035048","article-title":"Inhibition of de novo ceramide biosynthesis by FTY720 protects rat retina from light-induced degeneration","volume":"54","author":"Chen","year":"2013","journal-title":"J Lipid Res"},{"key":"10.1016\/j.ajpath.2018.10.018_bib58","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.bbacli.2017.02.001","article-title":"Enzyme replacement therapy for Farber disease: proof-of-concept studies in cells and mice","volume":"7","author":"He","year":"2017","journal-title":"BBA Clin"},{"key":"10.1016\/j.ajpath.2018.10.018_bib59","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ymgme.2008.08.003","article-title":"In\u00a0vivo delivery of human acid ceramidase via cord blood transplantation and direct injection of lentivirus as novel treatment approaches for Farber disease","volume":"95","author":"Ramsubir","year":"2008","journal-title":"Mol Genet Metab"}],"container-title":["The American Journal of Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944018305042?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944018305042?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T11:05:57Z","timestamp":1762081557000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002944018305042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":59,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["S0002944018305042"],"URL":"https:\/\/doi.org\/10.1016\/j.ajpath.2018.10.018","relation":{},"ISSN":["0002-9440"],"issn-type":[{"value":"0002-9440","type":"print"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajpath.2018.10.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}